Variant report

Variant	nsv916914
Chromosome Location	chrX:153767227-153774116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:654)
CpG islands
(count:428)
Chromatin interactive
region (count:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:153770185-153770585	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:153770203-153770466	K562	blood:	n/a	n/a
3	ATF1	chrX:153770158-153770738	K562	blood:	n/a	n/a
4	ATF3	chrX:153769691-153770699	A549	lung:	n/a	n/a
5	ATF3	chrX:153769959-153770566	A549	lung:	n/a	n/a
6	ATF3	chrX:153770031-153770542	K562	blood:	n/a	n/a
7	ATF3	chrX:153770161-153770525	K562	blood:	n/a	n/a
8	BACH1	chrX:153770335-153770393	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chrX:153769940-153770644	K562	blood:	n/a	chrX:153770301-153770315
10	BCL3	chrX:153768949-153771880	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365
11	BCL3	chrX:153773985-153775148	A549	lung:	n/a	chrX:153774941-153774954 chrX:153774945-153774958
12	BCL3	chrX:153769056-153771948	A549	lung:	n/a	chrX:153770715-153770724 chrX:153770358-153770365
13	BCL3	chrX:153772930-153773505	A549	lung:	n/a	n/a
14	BHLHE40	chrX:153769882-153770546	K562	blood:	n/a	n/a
15	BHLHE40	chrX:153771038-153771382	GM12878	blood:	n/a	chrX:153771227-153771236 chrX:153771227-153771236 chrX:153771228-153771237
16	BHLHE40	chrX:153771017-153771383	K562	blood:	n/a	chrX:153771227-153771236 chrX:153771227-153771236 chrX:153771228-153771237
17	BHLHE40	chrX:153770637-153771421	HepG2	liver:	n/a	chrX:153771227-153771236 chrX:153771227-153771236 chrX:153771228-153771237
18	BHLHE40	chrX:153771084-153771399	A549	lung:	n/a	chrX:153771227-153771236 chrX:153771227-153771236 chrX:153771228-153771237
19	BRCA1	chrX:153770162-153770363	HepG2	liver:	n/a	n/a
20	BRCA1	chrX:153769445-153770551	Hela-S3	cervix:	n/a	n/a
21	CBX3	chrX:153769895-153770518	K562	blood:	n/a	n/a
22	CCNT2	chrX:153770060-153770564	K562	blood:	n/a	n/a
23	CEBPB	chrX:153768641-153768852	Hela-S3	cervix:	n/a	chrX:153768802-153768813
24	CEBPB	chrX:153769151-153769862	MCF-7	breast:	n/a	n/a
25	CEBPB	chrX:153770052-153771736	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chrX:153768744-153768876	HepG2	liver:	n/a	chrX:153768802-153768813
27	CEBPB	chrX:153768620-153768991	A549	lung:	n/a	chrX:153768802-153768813
28	CEBPB	chrX:153768587-153769091	MCF-7	breast:	n/a	chrX:153768802-153768813
29	CEBPB	chrX:153769940-153770618	A549	lung:	n/a	n/a
30	CEBPB	chrX:153769470-153769762	A549	lung:	n/a	n/a
31	CEBPB	chrX:153771335-153771730	MCF-7	breast:	n/a	n/a
32	CEBPB	chrX:153769384-153769765	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chrX:153768647-153768936	HepG2	liver:	n/a	chrX:153768802-153768813
34	CEBPB	chrX:153771040-153771897	A549	lung:	n/a	n/a
35	CEBPB	chrX:153770203-153771923	A549	lung:	n/a	n/a
36	CEBPB	chrX:153771382-153771677	HepG2	liver:	n/a	n/a
37	CEBPB	chrX:153771365-153771687	K562	blood:	n/a	n/a
38	CEBPB	chrX:153768574-153769110	A549	lung:	n/a	chrX:153768802-153768813
39	CEBPD	chrX:153770045-153770467	HepG2	liver:	n/a	n/a
40	CHD2	chrX:153769297-153769691	HepG2	liver:	n/a	n/a
41	CHD2	chrX:153769933-153771463	Hela-S3	cervix:	n/a	n/a
42	CHD2	chrX:153769394-153769600	Hela-S3	cervix:	n/a	n/a
43	CREB1	chrX:153769190-153769533	A549	lung:	n/a	n/a
44	CREB1	chrX:153769984-153771404	A549	lung:	n/a	n/a
45	CREB1	chrX:153770124-153770505	A549	lung:	n/a	n/a
46	CTCF	chrX:153770086-153770314	K562	blood:	n/a	n/a
47	CTCF	chrX:153770160-153770310	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chrX:153773982-153774013	GM12891	blood:	n/a	n/a
49	CTCF	chrX:153773899-153774052	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:153768025-153768106	GM10266	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153770626-153770676	NT2-D1	testis:	n/a
2	chrX:153770626-153770676	NT2-D1	testis:	n/a
3	chrX:153770094-153770144	K562	blood:	n/a
4	chrX:153770051-153770101	AG10803	skin:	n/a
5	chrX:153770045-153770095	SAEC	small airway:	n/a
6	chrX:153770094-153770144	AG04449	skin:	fetal
7	chrX:153770313-153770363	Jurkat	blood:	n/a
8	chrX:153770313-153770363	Caco-2	colon:	n/a
9	chrX:153770094-153770144	BJ	skin:	n/a
10	chrX:153770051-153770101	GM12892	blood:	n/a
11	chrX:153770626-153770676	HRPEpiC	eye:	n/a
12	chrX:153770313-153770363	MCF-7	breast:	n/a
13	chrX:153770094-153770144	SK-N-SH_RA	brain:	n/a
14	chrX:153770983-153771033	ECC-1	luminal epithelium:	n/a
15	chrX:153770626-153770676	IMR90	lung:	fetal
16	chrX:153770045-153770095	GM19239	blood:	n/a
17	chrX:153770094-153770144	U87	brain:	n/a
18	chrX:153770626-153770676	NHBE	bronchial:	n/a
19	chrX:153770983-153771033	BJ	skin:	n/a
20	chrX:153770418-153770468	GM19239	blood:	n/a
21	chrX:153770626-153770676	RPTEC	kidney:	n/a
22	chrX:153770051-153770101	Hepatocyte	liver:	n/a
23	chrX:153770094-153770144	AoSMC	blood vessel:	n/a
24	chrX:153770418-153770468	K562	blood:	n/a
25	chrX:153770094-153770144	HL-60	blood:	n/a
26	chrX:153770626-153770676	GM19239	blood:	n/a
27	chrX:153770094-153770144	NHDF-neo	bronchial:	n/a
28	chrX:153770626-153770676	HMEC	breast:	n/a
29	chrX:153770626-153770676	Hela-S3	cervix:	n/a
30	chrX:153770626-153770676	AG04450	lung:	fetal
31	chrX:153770418-153770468	AG10803	skin:	n/a
32	chrX:153770418-153770468	RPTEC	kidney:	n/a
33	chrX:153770626-153770676	H1-hESC	embryonic stem cell:	embryo
34	chrX:153770983-153771033	AG09309	skin:	n/a
35	chrX:153770626-153770676	HCM	heart:	n/a
36	chrX:153770626-153770676	SK-N-MC	brain:	n/a
37	chrX:153770051-153770101	HRPEpiC	eye:	n/a
38	chrX:153770418-153770468	HepG2	liver:	n/a
39	chrX:153770045-153770095	A549	lung:	n/a
40	chrX:153770418-153770468	Jurkat	blood:	n/a
41	chrX:153770983-153771033	Hela-S3	cervix:	n/a
42	chrX:153770313-153770363	Hepatocyte	liver:	n/a
43	chrX:153770051-153770101	HepG2	liver:	n/a
44	chrX:153770418-153770468	NB4	blood:	n/a
45	chrX:153770313-153770363	SK-N-SH_RA	brain:	n/a
46	chrX:153770045-153770095	MCF10A-Er-Src	breast:	n/a
47	chrX:153770983-153771033	AG10803	skin:	n/a
48	chrX:153770313-153770363	BE2_C	brain:	n/a
49	chrX:153770045-153770095	K562	blood:	n/a
50	chrX:153770313-153770363	MCF10A-Er-Src	breast:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:119812996..119815585-chrX:153772819..153775165,2	MCF-7	breast:
2	chrX:153606962..153610792-chrX:153771675..153776389,4	MCF-7	breast:
3	chrX:153647962..153648876-chrX:153768790..153770430,11	MCF-7	breast:
4	chrX:153742627..153746314-chrX:153768128..153770916,5	MCF-7	breast:
5	chrX:153770673..153771411-chrX:153877763..153878515,2	MCF-7	breast:
6	chrX:153625296..153629968-chrX:153767983..153777827,13	K562	blood:
7	chrX:153655481..153657852-chrX:153768778..153771748,2	MCF-7	breast:
8	X:153614328-153625659..X:153771683-153779571	K562	blood:
9	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
10	chrX:153625830..153633897-chrX:153767392..153772063,11	K562	blood:
11	chrX:153706238..153709054-chrX:153774005..153776728,3	K562	blood:
12	chrX:153624391..153630513-chrX:153767458..153777755,28	MCF-7	breast:
13	chrX:153636582..153642277-chrX:153772882..153776754,8	MCF-7	breast:
14	chrX:153754851..153757305-chrX:153770757..153773050,2	MCF-7	breast:
15	chrX:153761478..153764716-chrX:153773233..153776787,4	K562	blood:
16	chrX:153717887..153720705-chrX:153773956..153775891,2	K562	blood:
17	chrX:153605631..153609024-chrX:153768272..153771518,4	MCF-7	breast:
18	chrX:153236430..153239363-chrX:153768843..153770673,2	MCF-7	breast:
19	chrX:153743857..153745716-chrX:153768769..153770861,3	K562	blood:
20	chrX:153760244..153763093-chrX:153768256..153770323,2	K562	blood:
21	chrX:153659718..153661567-chrX:153773339..153777531,3	MCF-7	breast:
22	chrX:153629459..153632266-chrX:153773289..153775719,2	K562	blood:
23	chrX:153743896..153747919-chrX:153768909..153770861,4	K562	blood:
24	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
25	chrX:153773970..153776679-chrX:153978270..153980734,2	K562	blood:
26	chrX:153769556..153770370-chrX:153878017..153878518,2	MCF-7	breast:
27	chrX:153602511..153603234-chrX:153769812..153770368,2	MCF-7	breast:
28	chr21:9824921..9827145-chrX:153773717..153776381,2	MCF-7	breast:
29	chrX:153651973..153654173-chrX:153766111..153768679,2	K562	blood:
30	chrX:153645880..153647926-chrX:153769966..153772219,2	MCF-7	breast:
31	chrX:153743966..153746231-chrX:153773645..153775615,2	K562	blood:
32	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
33	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
34	X:153614328-153625659..X:153755323-153771683	K562	blood:
35	chrX:153773014..153778101-chrX:153778456..153782500,6	K562	blood:
36	chrX:153597790..153604909-chrX:153773272..153777379,16	MCF-7	breast:
37	chrX:153595797..153602112-chrX:153766071..153771136,12	MCF-7	breast:
38	chrX:153647929..153648925-chrX:153768826..153770417,9	MCF-7	breast:
39	chrX:153760070..153764716-chrX:153773233..153775153,4	K562	blood:
40	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:
41	chrX:153639279..153641486-chrX:153769112..153771596,3	MCF-7	breast:
42	chrX:153595658..153604095-chrX:153765725..153780258,40	MCF-7	breast:
43	chrX:153769675..153772561-chrX:153778799..153782513,4	MCF-7	breast:
44	chrX:153718887..153719776-chrX:153768848..153769884,7	MCF-7	breast:
45	chrX:153666975..153668910-chrX:153767855..153770854,2	MCF-7	breast:
46	chrX:153597323..153603501-chrX:153767536..153771485,7	K562	blood:
47	chrX:153597323..153599953-chrX:153767551..153771879,5	K562	blood:
48	chr17:62500269..62502052-chrX:153769517..153771646,2	MCF-7	breast:
49	chrX:153606027..153608677-chrX:153768704..153771299,2	MCF-7	breast:
50	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:

No data

Variant related genes	Relation type
G6PD	TF binding region
IKBKG	TF binding region
G6PD	CpG island
IKBKG	CpG island
ENSG00000160219	chromatin interactions
ENSG00000013563	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000102119	chromatin interactions
ENSG00000172534	chromatin interactions
ENSG00000261773	chromatin interactions
ENSG00000130826	chromatin interactions
ENSG00000102125	chromatin interactions
ENSG00000264631	chromatin interactions
ENSG00000196976	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000160211	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000264484	chromatin interactions
ENSG00000197180	chromatin interactions
ENSG00000071553	chromatin interactions
ENSG00000264783	chromatin interactions
ENSG00000207165	chromatin interactions
ENSG00000071889	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000102178	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000073009	chromatin interactions
ENSG00000203879	chromatin interactions
ENSG00000108654	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142748407	chrX:153767416-153767417	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs146051477	chrX:153767430-153767431	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs185486760	chrX:153767455-153767456	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs189201730	chrX:153767960-153767961	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs192791926	chrX:153768004-153768005	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs60738129	chrX:153768098-153768099	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs184345041	chrX:153768138-153768139	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs113881586	chrX:153768257-153768258	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs188793683	chrX:153768404-153768405	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs181213010	chrX:153768447-153768448	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs372371048	chrX:153768556-153768557	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs186165666	chrX:153768805-153768806	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs188962851	chrX:153768809-153768810	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs374627028	chrX:153768852-153768853	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs368430187	chrX:153768853-153768854	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs373174016	chrX:153768867-153768868	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs372710912	chrX:153768883-153768884	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs181932033	chrX:153769060-153769061	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs35948381	chrX:153769114-153769115	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs187223853	chrX:153769115-153769116	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs191938568	chrX:153769140-153769141	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs182957060	chrX:153769446-153769447	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs375048905	chrX:153769639-153769640	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
24	rs185886425	chrX:153769817-153769818	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
25	rs369212076	chrX:153769818-153769819	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
26	rs190165081	chrX:153769826-153769827	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
27	rs73641103	chrX:153769889-153769890	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs182430353	chrX:153769938-153769939	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
29	rs372558309	chrX:153769992-153769993	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs187365164	chrX:153769995-153769996	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs375146453	chrX:153770004-153770005	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs201991644	chrX:153770084-153770085	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs190327948	chrX:153770137-153770138	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs375586532	chrX:153770288-153770289	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs183383141	chrX:153770392-153770393	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs202220072	chrX:153770497-153770498	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs369777148	chrX:153770532-153770533	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs371427128	chrX:153770582-153770583	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs201460468	chrX:153770589-153770590	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs11544439	chrX:153770611-153770612	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs189237568	chrX:153770626-153770627	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs368857323	chrX:153770634-153770635	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs373355350	chrX:153770692-153770693	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs193062832	chrX:153771038-153771039	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs73573488	chrX:153771125-153771126	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs111615979	chrX:153771195-153771196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs184623935	chrX:153771276-153771277	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs2472393	chrX:153771296-153771297	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112022908	chrX:153771320-153771321	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs2472394	chrX:153771351-153771352	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Abnormal corpus callosum	21572526	CNVD
Breast cancer	21364760	CNVD
Astrocytoma	22246337	CNVD
Cerebellar atrophy	21569638	CNVD
periventricular nodular heterotopia	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Hoyeraal-Hreidarsson syndrome	21569638	CNVD
Oto-palato-digital type II	21569638	CNVD
incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency	18350553	CNVD
Aqueductal stenosis	21572526	CNVD
Hirschsprung''s Disease	21712996	CNVD
Vermis hypoplasia	21569638	CNVD
X-linked hydrocephalus	21569638	CNVD
Rett syndrome	21569638	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Epilepsy	20970697	CNVD
Hemophilia A	17823971	CNVD
Rett syndrome	18923514	CNVD
Rett syndrome	22241247	CNVD
Intellectual disability	21984752	CNVD
Mental retardation	19951919	CNVD
Hypotonia	17088400	CNVD
Intellectual disability	22511893	CNVD
Mental retardation	17088400	CNVD
Mental retardation	21119712	CNVD
Neurodevelopmental disorder	19324899	CNVD
Recurrent Infections	17088400	CNVD
Rett syndrome	22283845	CNVD
Rett syndrome	21383316	CNVD
Cryptorchidism	21048976	CNVD
Disorders of sex development	21048976	CNVD
Cervical cancer	21062161	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Hemophilia A	18787571	CNVD
Hunters syndrom	18787571	CNVD
Prader-willi syndrome	20588305	CNVD
Mental retardation	19057379	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
abortions and stillbirths	19751515	CNVD
Hereditary coagulopathy	21993689	CNVD
Intellectual disability	23615299	CNVD
Mental retardation	17621639	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Pancreatic cancer	17952125	CNVD
Heart failure	16880705	CNVD
Haemophilia	22138850	CNVD
Incontinentia Pigmenti	22121116	CNVD

Chromatin state (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153755800-153769200	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:153755800-153769400	Weak transcription	Right Atrium	heart
3	chrX:153755800-153770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chrX:153756000-153768800	Weak transcription	NH-A	brain
5	chrX:153756000-153769000	Weak transcription	HUVEC	blood vessel
6	chrX:153756000-153770400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chrX:153756000-153770600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chrX:153756000-153770600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chrX:153756000-153774200	Weak transcription	Psoas Muscle	Psoas
10	chrX:153756000-153774800	Weak transcription	Aorta	Aorta
11	chrX:153756200-153768800	Weak transcription	Stomach Mucosa	stomach
12	chrX:153756200-153770000	Weak transcription	Fetal Lung	lung
13	chrX:153759600-153769000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chrX:153761000-153769600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chrX:153762400-153767400	Weak transcription	HSMM	muscle
16	chrX:153762600-153769600	Weak transcription	Left Ventricle	heart
17	chrX:153762600-153770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chrX:153762600-153770600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chrX:153762800-153771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chrX:153762800-153774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chrX:153762800-153774800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chrX:153763000-153769200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chrX:153763000-153770400	Weak transcription	GM12878-XiMat	blood
24	chrX:153763000-153774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chrX:153763000-153774400	Weak transcription	Fetal Kidney	kidney
26	chrX:153763200-153769000	Weak transcription	Osteobl	bone
27	chrX:153763200-153769200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chrX:153763200-153770200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chrX:153763600-153767400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chrX:153763600-153767600	Weak transcription	Brain Angular Gyrus	brain
31	chrX:153763600-153768600	Weak transcription	Liver	Liver
32	chrX:153763600-153768800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chrX:153763600-153768800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chrX:153763600-153768800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chrX:153763600-153769000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chrX:153763600-153769000	Weak transcription	Primary B cells from cord blood	blood
37	chrX:153763600-153769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chrX:153763600-153769800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chrX:153763600-153770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chrX:153763600-153770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chrX:153763600-153770400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chrX:153763600-153771000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chrX:153763600-153773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chrX:153763600-153774400	Weak transcription	Fetal Intestine Large	intestine
45	chrX:153763800-153769000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chrX:153763800-153769400	Weak transcription	NHDF-Ad	bronchial
47	chrX:153763800-153770000	Weak transcription	Gastric	stomach
48	chrX:153764200-153768800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chrX:153764200-153774600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chrX:153764400-153767400	Weak transcription	Brain Inferior Temporal Lobe	brain

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