Variant report

Variant	esv3433124
Chromosome Location	chrX:153714108-153716206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chrX:153714338-153714551	K562	blood:	n/a	n/a
2	BACH1	chrX:153715153-153715414	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chrX:153715149-153715472	K562	blood:	n/a	n/a
4	BHLHE40	chrX:153714380-153714519	K562	blood:	n/a	n/a
5	CBX3	chrX:153714110-153714589	K562	blood:	n/a	n/a
6	CCNT2	chrX:153714196-153715464	K562	blood:	n/a	n/a
7	CHD2	chrX:153714624-153714656	GM12878	blood:	n/a	n/a
8	CHD2	chrX:153714815-153715357	Hela-S3	cervix:	n/a	n/a
9	CHD2	chrX:153715227-153715419	GM12878	blood:	n/a	chrX:153715363-153715373
10	CREB1	chrX:153714997-153715379	A549	lung:	n/a	n/a
11	CTCF	chrX:153715260-153715410	HEK293	kidney:	n/a	n/a
12	CTCF	chrX:153714366-153714474	GM12891	blood:	n/a	n/a
13	CTCF	chrX:153714100-153714250	Hela-S3	cervix:	n/a	n/a
14	CTCF	chrX:153715340-153715490	GM12873	blood:	n/a	n/a
15	CTCF	chrX:153714140-153714290	WERI-Rb-1	eye:	n/a	n/a
16	CUX1	chrX:153714212-153714485	K562	blood:	n/a	n/a
17	E2F1	chrX:153714260-153715379	Hela-S3	cervix:	n/a	chrX:153714462-153714473 chrX:153715365-153715374 chrX:153715335-153715345
18	E2F4	chrX:153715202-153715396	MCF10A-Er-Src	breast:	n/a	chrX:153715365-153715374 chrX:153715335-153715345
19	E2F6	chrX:153715073-153715220	K562	blood:	n/a	n/a
20	E2F6	chrX:153714210-153714576	K562	blood:	n/a	n/a
21	E2F6	chrX:153714182-153715322	K562	blood:	n/a	n/a
22	E2F6	chrX:153714091-153715066	K562	blood:	n/a	n/a
23	E2F6	chrX:153714024-153714816	A549	lung:	n/a	n/a
24	E2F6	chrX:153714143-153714597	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chrX:153714214-153714618	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chrX:153714288-153714573	A549	lung:	n/a	n/a
27	EBF1	chrX:153715197-153715529	GM12878	blood:	n/a	chrX:153715503-153715512 chrX:153715503-153715512
28	EGR1	chrX:153714016-153714475	K562	blood:	n/a	chrX:153714191-153714205 chrX:153714028-153714038 chrX:153714025-153714038 chrX:153714026-153714036
29	EGR1	chrX:153714966-153715681	HCT-116	colon:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
30	EGR1	chrX:153715061-153715724	HCT-116	colon:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
31	EGR1	chrX:153714977-153715581	MCF-7	breast:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
32	EGR1	chrX:153715058-153715624	ECC-1	luminal epithelium:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
33	EGR1	chrX:153713980-153714463	K562	blood:	n/a	chrX:153714191-153714205 chrX:153714028-153714038 chrX:153714025-153714038 chrX:153714026-153714036
34	EGR1	chrX:153715229-153715526	GM12878	blood:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377
35	EGR1	chrX:153714941-153715626	K562	blood:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
36	EGR1	chrX:153714101-153714264	GM12878	blood:	n/a	chrX:153714191-153714205
37	EGR1	chrX:153714576-153714880	K562	blood:	n/a	chrX:153714777-153714787 chrX:153714793-153714806 chrX:153714708-153714718
38	EGR1	chrX:153715087-153715681	MCF-7	breast:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
39	EGR1	chrX:153714518-153715628	K562	blood:	n/a	chrX:153715366-153715376 chrX:153714777-153714787 chrX:153715367-153715376 chrX:153714793-153714806 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216 chrX:153714708-153714718
40	EGR1	chrX:153715241-153715473	GM12878	blood:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377
41	EGR1	chrX:153714979-153715565	ECC-1	luminal epithelium:	n/a	chrX:153715366-153715376 chrX:153715367-153715376 chrX:153715365-153715379 chrX:153715363-153715377 chrX:153715288-153715298 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715366-153715379 chrX:153715289-153715298 chrX:153715288-153715301 chrX:153715366-153715379 chrX:153715367-153715377 chrX:153715194-153715216
42	ELF1	chrX:153715021-153715628	GM12878	blood:	n/a	chrX:153715364-153715376
43	ELF1	chrX:153715120-153715465	K562	blood:	n/a	chrX:153715364-153715376
44	ELF1	chrX:153714169-153714622	K562	blood:	n/a	n/a
45	ELF1	chrX:153715107-153715456	GM12878	blood:	n/a	chrX:153715364-153715376
46	ELF1	chrX:153715101-153715553	MCF-7	breast:	n/a	chrX:153715364-153715376
47	ELF1	chrX:153714151-153714718	GM12878	blood:	n/a	n/a
48	ELF1	chrX:153714795-153715425	K562	blood:	n/a	chrX:153715364-153715376
49	ELK1	chrX:153715000-153715194	Hela-S3	cervix:	n/a	n/a
50	EP300	chrX:153715387-153715461	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:153715055-153715105	SKMC	muscle:	n/a
2	chrX:153715321-153715371	HCM	heart:	n/a
3	chrX:153715055-153715105	SKMC	muscle:	n/a
4	chrX:153715321-153715371	HCM	heart:	n/a
5	chrX:153715321-153715371	AG04450	lung:	fetal
6	chrX:153714615-153714665	NB4	blood:	n/a
7	chrX:153715609-153715659	AG04450	lung:	fetal
8	chrX:153714615-153714665	GM12892	blood:	n/a
9	chrX:153714615-153714665	PFSK-1	brain:	n/a
10	chrX:153715055-153715105	GM12878	blood:	n/a
11	chrX:153715339-153715389	GM12878	blood:	n/a
12	chrX:153715339-153715389	GM19239	blood:	n/a
13	chrX:153715339-153715389	SAEC	small airway:	n/a
14	chrX:153715426-153715476	HCF	heart:	n/a
15	chrX:153714615-153714665	MCF10A-Er-Src	breast:	n/a
16	chrX:153715068-153715118	BE2_C	brain:	n/a
17	chrX:153715055-153715105	HEEpiC	esophagus:	n/a
18	chrX:153715321-153715371	NH-A	brain:	n/a
19	chrX:153715241-153715291	BE2_C	brain:	n/a
20	chrX:153715068-153715118	HRCEpiC	kidney:	n/a
21	chrX:153715339-153715389	GM12891	blood:	n/a
22	chrX:153715321-153715371	Caco-2	colon:	n/a
23	chrX:153715426-153715476	HUVEC	blood vessel:	n/a
24	chrX:153715055-153715105	U87	brain:	n/a
25	chrX:153715087-153715137	GM19239	blood:	n/a
26	chrX:153715068-153715118	MCF10A-Er-Src	breast:	n/a
27	chrX:153715055-153715105	BJ	skin:	n/a
28	chrX:153715321-153715371	K562	blood:	n/a
29	chrX:153715241-153715291	AG09309	skin:	n/a
30	chrX:153714615-153714665	SK-N-SH_RA	brain:	n/a
31	chrX:153715339-153715389	HRE	kidney:	n/a
32	chrX:153715087-153715137	Jurkat	blood:	n/a
33	chrX:153715321-153715371	NT2-D1	testis:	n/a
34	chrX:153715241-153715291	Hela-S3	cervix:	n/a
35	chrX:153714615-153714665	HIPEpiC	eye:	n/a
36	chrX:153714615-153714665	HRCEpiC	kidney:	n/a
37	chrX:153715609-153715659	ovcar-3	ovarian:	n/a
38	chrX:153715609-153715659	HNPCEpiC	eye:	n/a
39	chrX:153715609-153715659	HPAEpiC	pulmonary alveolar:	n/a
40	chrX:153715609-153715659	BJ	skin:	n/a
41	chrX:153715321-153715371	HCF	heart:	n/a
42	chrX:153715241-153715291	HRE	kidney:	n/a
43	chrX:153715426-153715476	GM12892	blood:	n/a
44	chrX:153715241-153715291	AG04450	lung:	fetal
45	chrX:153714660-153714710	NH-A	brain:	n/a
46	chrX:153715321-153715371	Hela-S3	cervix:	n/a
47	chrX:153714660-153714710	BE2_C	brain:	n/a
48	chrX:153714660-153714710	Hepatocyte	liver:	n/a
49	chrX:153715321-153715371	MCF10A-Er-Src	breast:	n/a
50	chrX:153715241-153715291	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:153624542..153632362-chrX:153710560..153721332,23	K562	blood:
2	chrX:153234477..153236480-chrX:153714089..153717072,2	K562	blood:
3	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
4	chrX:153713288..153721499-chrX:153767815..153773161,10	MCF-7	breast:
5	chrX:153237789..153240120-chrX:153715311..153716819,2	MCF-7	breast:
6	chrX:153605593..153609893-chrX:153711571..153716768,6	K562	blood:
7	chrX:153715077..153717508-chrX:153733605..153735142,2	K562	blood:
8	chrX:153674318..153677222-chrX:153712203..153714813,3	K562	blood:
9	chrX:153639142..153641724-chrX:153713465..153715375,4	MCF-7	breast:
10	chr16:31190898..31191887-chrX:153714080..153715002,2	Hela-S3	cervix:
11	chrX:153711607..153725784-chrX:153738770..153748754,27	K562	blood:
12	chrX:153648825..153650484-chrX:153715123..153717815,2	MCF-7	breast:
13	chrX:153697571..153703616-chrX:153709529..153715825,8	MCF-7	breast:
14	chrX:153605453..153609525-chrX:153712051..153716179,6	MCF-7	breast:
15	chrX:153711592..153716888-chrX:153760694..153766504,10	MCF-7	breast:
16	chrX:153714637..153717614-chrX:153774027..153776587,2	K562	blood:
17	chrX:153639079..153641453-chrX:153714284..153716430,2	K562	blood:
18	chrX:153684734..153690386-chrX:153710045..153718317,11	K562	blood:
19	chrX:153711367..153718079-chrX:153742298..153748484,13	K562	blood:
20	chrX:153624545..153632466-chrX:153709449..153721332,27	K562	blood:
21	chrX:153671368..153673500-chrX:153711760..153714684,2	K562	blood:
22	chrX:153669908..153672690-chrX:153713868..153717711,4	MCF-7	breast:
23	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
24	chrX:153712862..153716379-chrX:153773449..153776383,5	MCF-7	breast:
25	chrX:153644453..153647083-chrX:153713946..153716046,3	MCF-7	breast:
26	chrX:153713355..153716352-chrX:153738180..153740001,2	K562	blood:
27	chrX:153576705..153579564-chrX:153713461..153716046,2	MCF-7	breast:
28	chrX:153684737..153690252-chrX:153712522..153716734,15	MCF-7	breast:
29	chrX:153596460..153601893-chrX:153713560..153721410,16	MCF-7	breast:
30	chr20:52824614..52827050-chrX:153713627..153715899,2	MCF-7	breast:
31	chrX:153711537..153716459-chrX:153767417..153772470,5	K562	blood:
32	chrX:153624383..153633652-chrX:153704408..153721325,48	MCF-7	breast:
33	chrX:153691004..153695395-chrX:153711545..153717567,7	MCF-7	breast:
34	chrX:153713080..153721291-chrX:153722442..153727868,15	K562	blood:
35	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
36	chrX:153601928..153604764-chrX:153713001..153716367,3	MCF-7	breast:
37	chrX:153711098..153721097-chrX:153740825..153747830,28	MCF-7	breast:
38	chrX:153598007..153604368-chrX:153709391..153720590,15	MCF-7	breast:
39	chrX:153713383..153715797-chrX:153769453..153771661,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A3-1	chrX:153714876-153714923	NONHSAT139189
2	lnc-SLC10A3-1	chrX:153714381-153714672	NONHSAT139189

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC10A3	hsa-miR-130b-3p	chrX:153715788-153715782

Variant related genes	Relation type
UBL4A	TF binding region
UBL4A	CpG island
ENSG00000013563	chromatin interactions
ENSG00000261773	chromatin interactions
ENSG00000071889	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000264783	chromatin interactions
ENSG00000160211	chromatin interactions
ENSG00000071553	chromatin interactions
ENSG00000102125	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000264484	chromatin interactions
ENSG00000071859	chromatin interactions
ENSG00000203879	chromatin interactions
ENSG00000196924	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000130827	chromatin interactions
ENSG00000073009	chromatin interactions
ENSG00000235802	chromatin interactions
ENSG00000102119	chromatin interactions
ENSG00000207165	chromatin interactions
ENSG00000264631	chromatin interactions
ENSG00000101132	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201886422	chrX:153714137-153714138	Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs150392222	chrX:153714160-153714161	Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs377663564	chrX:153714163-153714164	Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs138227292	chrX:153714209-153714210	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs369463648	chrX:153714227-153714228	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs374503557	chrX:153714228-153714229	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs149580851	chrX:153714251-153714252	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs143278263	chrX:153714290-153714291	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs376857252	chrX:153714305-153714306	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs370563061	chrX:153714315-153714316	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs373669325	chrX:153714348-153714349	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs377233446	chrX:153714357-153714358	Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs199713222	chrX:153714550-153714551	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
14	rs370390106	chrX:153714562-153714563	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
15	rs373941601	chrX:153714688-153714689	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs113048566	chrX:153714712-153714713	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
17	rs12392491	chrX:153714785-153714786	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs369493145	chrX:153715131-153715132	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs113519705	chrX:153715153-153715154	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs188414796	chrX:153715243-153715244	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs5945434	chrX:153715316-153715317	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192690081	chrX:153715641-153715642	Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs1048969	chrX:153715716-153715717	Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs369220311	chrX:153715771-153715772	Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs11550365	chrX:153715793-153715794	Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs368389387	chrX:153715905-153715906	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs138980744	chrX:153715915-153715916	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs142132018	chrX:153715968-153715969	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs146406571	chrX:153715988-153715989	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs141154516	chrX:153716039-153716040	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs147598706	chrX:153716043-153716044	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs199783034	chrX:153716130-153716131	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs139014998	chrX:153716144-153716145	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs371811548	chrX:153716184-153716185	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs34467857	chrX:153716185-153716186	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153707200-153714200	Weak transcription	Ovary	ovary
2	chrX:153707600-153714200	Weak transcription	Small Intestine	intestine
3	chrX:153710200-153719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chrX:153711400-153714200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chrX:153711400-153718600	ZNF genes & repeats	Fetal Stomach	stomach
6	chrX:153711800-153714200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chrX:153711800-153714200	Enhancers	Liver	Liver
8	chrX:153712400-153714200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chrX:153712400-153714400	Enhancers	Placenta Amnion	Placenta Amnion
10	chrX:153712600-153714200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chrX:153712600-153714200	Genic enhancers	Spleen	Spleen
12	chrX:153712600-153714400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chrX:153712600-153714400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chrX:153712600-153714600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chrX:153712800-153714200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chrX:153712800-153714400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chrX:153713000-153714200	Enhancers	HUVEC	blood vessel
18	chrX:153713000-153714400	Enhancers	Primary hematopoietic stem cells	blood
19	chrX:153713200-153714200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chrX:153713200-153714400	Enhancers	Primary B cells from cord blood	blood
21	chrX:153713200-153714400	Enhancers	Fetal Brain Male	brain
22	chrX:153713200-153714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chrX:153713400-153714200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chrX:153713400-153714200	Weak transcription	Aorta	Aorta
25	chrX:153713400-153714200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chrX:153713400-153714200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chrX:153713400-153715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chrX:153713600-153714200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chrX:153713600-153714200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chrX:153713600-153714200	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chrX:153713600-153714200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chrX:153713600-153714200	Transcr. at gene 5' and 3'	A549	lung
33	chrX:153713600-153714200	Flanking Active TSS	GM12878-XiMat	blood
34	chrX:153713600-153714400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chrX:153713600-153714400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chrX:153713600-153714600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chrX:153713800-153714200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chrX:153713800-153714200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
39	chrX:153713800-153714200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:153713800-153714200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chrX:153713800-153714200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chrX:153713800-153714200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chrX:153713800-153714200	Flanking Active TSS	Colonic Mucosa	Colon
44	chrX:153713800-153714200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
45	chrX:153713800-153714200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chrX:153713800-153714200	Weak transcription	Gastric	stomach
47	chrX:153713800-153714200	Transcr. at gene 5' and 3'	Lung	lung
48	chrX:153713800-153714200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chrX:153713800-153714200	Flanking Active TSS	NHLF	lung
50	chrX:153713800-153714200	Flanking Active TSS	Osteobl	bone

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