Variant report

Variant	nsv592034
Chromosome Location	chr3:150126351-150128227
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	ARID3A	chr3:150127729-150128041	K562	blood:	n/a	n/a
2	ARID3A	chr3:150127989-150128080	HepG2	liver:	n/a	n/a
3	ATF1	chr3:150125828-150126516	K562	blood:	n/a	chr3:150126004-150126018
4	ATF2	chr3:150125631-150126569	GM12878	blood:	n/a	chr3:150126004-150126018 chr3:150126006-150126017
5	ATF3	chr3:150125923-150126639	A549	lung:	n/a	chr3:150126007-150126027 chr3:150126005-150126015 chr3:150126006-150126017 chr3:150126005-150126015 chr3:150125996-150126016 chr3:150126005-150126016 chr3:150126004-150126019 chr3:150126008-150126015 chr3:150126007-150126015 chr3:150126006-150126019 chr3:150126008-150126016 chr3:150126004-150126015 chr3:150126005-150126018 chr3:150126004-150126017 chr3:150126006-150126017
6	BACH1	chr3:150127755-150127987	K562	blood:	n/a	n/a
7	BACH1	chr3:150127838-150128052	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr3:150125627-150126810	GM12878	blood:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
9	BCL3	chr3:150125904-150126978	A549	lung:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
10	BCL3	chr3:150125847-150126777	A549	lung:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
11	BCLAF1	chr3:150126665-150127304	GM12878	blood:	n/a	n/a
12	BCLAF1	chr3:150127590-150128271	GM12878	blood:	n/a	n/a
13	BCLAF1	chr3:150125912-150126580	GM12878	blood:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
14	BCLAF1	chr3:150125952-150126893	K562	blood:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
15	BCLAF1	chr3:150125785-150127150	GM12878	blood:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
16	BCLAF1	chr3:150127594-150128164	GM12878	blood:	n/a	n/a
17	BHLHE40	chr3:150126144-150126359	A549	lung:	n/a	n/a
18	BHLHE40	chr3:150127541-150128389	HepG2	liver:	n/a	n/a
19	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
20	BHLHE40	chr3:150125606-150127282	HepG2	liver:	n/a	chr3:150126547-150126563
21	BHLHE40	chr3:150127679-150128165	GM12878	blood:	n/a	n/a
22	BHLHE40	chr3:150125396-150128322	K562	blood:	n/a	chr3:150126547-150126563
23	BRCA1	chr3:150125959-150126737	GM12878	blood:	n/a	n/a
24	BRCA1	chr3:150126559-150126739	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr3:150127448-150128056	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr3:150125427-150126759	K562	blood:	n/a	n/a
27	CCNT2	chr3:150125508-150128806	K562	blood:	n/a	chr3:150125956-150125965 chr3:150125690-150125699 chr3:150126418-150126427
28	CEBPB	chr3:150127717-150127792	K562	blood:	n/a	n/a
29	CEBPB	chr3:150127571-150128724	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr3:150127776-150127900	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr3:150125463-150126814	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr3:150125799-150127179	MCF-7	breast:	n/a	n/a
33	CEBPD	chr3:150125950-150126930	K562	blood:	n/a	n/a
34	CEBPD	chr3:150125879-150126364	HepG2	liver:	n/a	n/a
35	CEBPD	chr3:150126579-150126891	HepG2	liver:	n/a	n/a
36	CHD1	chr3:150125192-150128308	GM12878	blood:	n/a	chr3:150126810-150126820
37	CHD1	chr3:150127708-150128010	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr3:150124409-150133231	IMR90	lung:	n/a	chr3:150126810-150126820
39	CHD1	chr3:150126134-150126793	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr3:150125678-150126401	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr3:150125337-150128890	Hela-S3	cervix:	n/a	chr3:150126810-150126820
42	CHD2	chr3:150127504-150128082	HepG2	liver:	n/a	n/a
43	CHD2	chr3:150125600-150126966	K562	blood:	n/a	chr3:150126810-150126820
44	CHD2	chr3:150125400-150128176	GM12878	blood:	n/a	chr3:150126810-150126820
45	CHD2	chr3:150125896-150126686	HepG2	liver:	n/a	n/a
46	CHD2	chr3:150127267-150128025	K562	blood:	n/a	n/a
47	CREB1	chr3:150125675-150127007	K562	blood:	n/a	chr3:150126005-150126018
48	CREB1	chr3:150127714-150128165	A549	lung:	n/a	n/a
49	CREB1	chr3:150125752-150126515	H1-hESC	embryonic stem cell:	n/a	chr3:150126005-150126018
50	CREB1	chr3:150127626-150128134	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150126560-150126610	AG09319	gingival:	n/a
2	chr3:150126560-150126610	AG09319	gingival:	n/a
3	chr3:150127556-150127606	SK-N-SH	brain:	n/a
4	chr3:150127151-150127201	NT2-D1	testis:	n/a
5	chr3:150127556-150127606	PANC-1	pancreas:	n/a
6	chr3:150127556-150127606	MCF10A-Er-Src	breast:	n/a
7	chr3:150127556-150127606	Hepatocyte	liver:	n/a
8	chr3:150127556-150127606	HNPCEpiC	eye:	n/a
9	chr3:150127772-150127822	Caco-2	colon:	n/a
10	chr3:150126535-150126585	GM12891	blood:	n/a
11	chr3:150127151-150127201	ProgFib	skin:	n/a
12	chr3:150127556-150127606	NT2-D1	testis:	n/a
13	chr3:150126560-150126610	Hepatocyte	liver:	n/a
14	chr3:150127151-150127201	SK-N-SH_RA	brain:	n/a
15	chr3:150126535-150126585	PFSK-1	brain:	n/a
16	chr3:150126560-150126610	SKMC	muscle:	n/a
17	chr3:150127556-150127606	AG09309	skin:	n/a
18	chr3:150127556-150127606	K562	blood:	n/a
19	chr3:150127556-150127606	LNCaP	prostate:	n/a
20	chr3:150127151-150127201	HEEpiC	esophagus:	n/a
21	chr3:150127556-150127606	HCPEpiC	choroid plexus:	n/a
22	chr3:150127151-150127201	HEK293	kidney:	embryo
23	chr3:150126560-150126610	HRPEpiC	eye:	n/a
24	chr3:150126535-150126585	LNCaP	prostate:	n/a
25	chr3:150127772-150127822	K562	blood:	n/a
26	chr3:150126535-150126585	GM12892	blood:	n/a
27	chr3:150127151-150127201	NH-A	brain:	n/a
28	chr3:150127151-150127201	AoSMC	blood vessel:	n/a
29	chr3:150126560-150126610	NHDF-neo	bronchial:	n/a
30	chr3:150127772-150127822	U87	brain:	n/a
31	chr3:150127556-150127606	NHBE	bronchial:	n/a
32	chr3:150127151-150127201	U87	brain:	n/a
33	chr3:150127772-150127822	SK-N-SH	brain:	n/a
34	chr3:150127151-150127201	NB4	blood:	n/a
35	chr3:150126560-150126610	HEEpiC	esophagus:	n/a
36	chr3:150126560-150126610	ovcar-3	ovarian:	n/a
37	chr3:150127772-150127822	HCPEpiC	choroid plexus:	n/a
38	chr3:150127151-150127201	HCT-116	colon:	n/a
39	chr3:150127772-150127822	MCF10A-Er-Src	breast:	n/a
40	chr3:150127151-150127201	HRCEpiC	kidney:	n/a
41	chr3:150127772-150127822	PFSK-1	brain:	n/a
42	chr3:150127151-150127201	LNCaP	prostate:	n/a
43	chr3:150126560-150126610	MCF10A-Er-Src	breast:	n/a
44	chr3:150127151-150127201	GM12878	blood:	n/a
45	chr3:150126535-150126585	NHDF-neo	bronchial:	n/a
46	chr3:150127151-150127201	SK-N-MC	brain:	n/a
47	chr3:150126560-150126610	HRE	kidney:	n/a
48	chr3:150126560-150126610	LNCaP	prostate:	n/a
49	chr3:150127772-150127822	HepG2	liver:	n/a
50	chr3:150127556-150127606	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
2	chr3:150125915..150126693-chr4:7069548..7070207,2	Hela-S3	cervix:
3	chr12:56511480..56512187-chr3:150126113..150126918,2	Hela-S3	cervix:
4	chr3:150126047..150126618-chr7:123197440..123198010,2	Hela-S3	cervix:
5	chr11:6502596..6503357-chr3:150126285..150127148,2	Hela-S3	cervix:
6	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:
7	chr3:126194258..126194803-chr3:150126403..150127134,2	Hela-S3	cervix:
8	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
9	chr19:17326167..17326754-chr3:150126165..150126968,2	Hela-S3	cervix:
10	chr1:228645408..228646124-chr3:150126162..150126716,2	Hela-S3	cervix:
11	chr3:150097794..150100688-chr3:150126424..150128739,2	K562	blood:
12	chr3:150126707..150128602-chr3:150209463..150211558,2	MCF-7	breast:
13	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
14	chr11:61582073..61582805-chr3:150126418..150126978,2	Hela-S3	cervix:
15	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
16	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
17	chr3:150106944..150109021-chr3:150126806..150128575,2	K562	blood:
18	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
19	chr3:150125609..150126516-chr4:56261520..56262416,2	HCT-116	colon:
20	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
21	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
22	chr2:242911446..242913304-chr3:150126973..150128473,2	MCF-7	breast:
23	chr3:150030571..150033361-chr3:150126551..150128588,2	K562	blood:
24	chr3:150021138..150022143-chr3:150127362..150128418,4	MCF-7	breast:
25	chr17:49198764..49199685-chr3:150127166..150127982,2	Hela-S3	cervix:
26	chr1:45672068..45672603-chr3:150125909..150126562,2	Hela-S3	cervix:
27	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
28	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
29	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
30	chr11:9594863..9595467-chr3:150126368..150127357,2	Hela-S3	cervix:
31	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
32	chr3:150126380..150127131-chr7:5632123..5632652,2	Hela-S3	cervix:
33	chr1:52870255..52870785-chr3:150125995..150126971,2	Hela-S3	cervix:
34	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
35	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
36	chr15:65596964..65597745-chr3:150125789..150126616,2	Hela-S3	cervix:
37	chr3:150126127..150126868-chrX:23801224..23801824,2	Hela-S3	cervix:
38	chr3:150126129..150126641-chr9:94185758..94186438,2	Hela-S3	cervix:
39	chr11:47869483..47870186-chr3:150125929..150126438,2	HCT-116	colon:
40	chr3:150125965..150126743-chr7:66767157..66768127,2	Hela-S3	cervix:
41	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
42	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
43	chr3:150127483..150128027-chr3:150213130..150214048,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D2	TF binding region
TSC22D2	CpG island
ENSG00000067601	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000170340	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000268175	chromatin interactions
ENSG00000070476	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000128609	chromatin interactions
ENSG00000237940	chromatin interactions
ENSG00000134851	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000130066	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000249700	chromatin interactions
ENSG00000106610	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000244541	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000109519	chromatin interactions
ENSG00000070087	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000134748	chromatin interactions
ENSG00000137960	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000222326	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000243550	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000162613	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000244265	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75533682	chr3:150126355-150126356	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
2	rs189318578	chr3:150126391-150126392	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
3	rs559146782	chr3:150126508-150126509	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
4	rs576005867	chr3:150126512-150126513	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
5	rs544951801	chr3:150126526-150126527	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
6	rs6772043	chr3:150126528-150126529	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
7	rs560854692	chr3:150126557-150126558	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
8	rs574452970	chr3:150126559-150126560	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
9	rs540246575	chr3:150126639-150126640	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
10	rs559950006	chr3:150126640-150126641	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
11	rs532272419	chr3:150126667-150126668	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs529941737	chr3:150126674-150126675	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs181291298	chr3:150126745-150126746	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
14	rs185896078	chr3:150126748-150126749	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs531486549	chr3:150126865-150126866	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs548045829	chr3:150126891-150126892	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
17	rs568035192	chr3:150126908-150126909	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs536199923	chr3:150126914-150126915	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs560026737	chr3:150127050-150127051	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs546983614	chr3:150127062-150127063	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs369065042	chr3:150127084-150127085	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs369002035	chr3:150127093-150127094	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs372604739	chr3:150127100-150127101	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs375548894	chr3:150127116-150127117	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs200893005	chr3:150127119-150127120	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs373221099	chr3:150127122-150127123	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs575947092	chr3:150127129-150127130	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs538458966	chr3:150127130-150127131	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs200857482	chr3:150127139-150127140	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs575217497	chr3:150127194-150127195	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs146870838	chr3:150127197-150127198	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs376160123	chr3:150127209-150127210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs17854330	chr3:150127272-150127273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs148379161	chr3:150127297-150127298	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs527555195	chr3:150127337-150127338	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs539836261	chr3:150127341-150127342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs372515184	chr3:150127350-150127351	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs370494218	chr3:150127358-150127359	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs576839752	chr3:150127396-150127397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs112998673	chr3:150127399-150127400	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs140643262	chr3:150127404-150127405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs370012280	chr3:150127474-150127475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs61734435	chr3:150127489-150127490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs569868270	chr3:150127517-150127518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs531373445	chr3:150127527-150127528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs541627096	chr3:150127529-150127530	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs561609411	chr3:150127537-150127538	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs61734436	chr3:150127539-150127540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144183125	chr3:150127546-150127547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs369100145	chr3:150127569-150127570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150124600-150127000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:150124600-150127400	Active TSS	NHLF	lung
3	chr3:150124600-150130600	Active TSS	Aorta	Aorta
4	chr3:150124600-150132200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150124600-150133000	Active TSS	Fetal Kidney	kidney
6	chr3:150124600-150133000	Active TSS	Right Atrium	heart
7	chr3:150124800-150126400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr3:150124800-150128600	Active TSS	HSMM	muscle
9	chr3:150124800-150128800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:150124800-150129200	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr3:150124800-150133600	Active TSS	Stomach Smooth Muscle	stomach
12	chr3:150125000-150126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:150125000-150127000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr3:150125000-150127600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:150125000-150128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:150125000-150128200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:150125000-150128400	Active TSS	Right Ventricle	heart
18	chr3:150125000-150128600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:150125000-150128600	Active TSS	Fetal Muscle Trunk	muscle
20	chr3:150125000-150128600	Active TSS	Fetal Muscle Leg	muscle
21	chr3:150125000-150128600	Active TSS	K562	blood
22	chr3:150125000-150129200	Active TSS	Brain Substantia Nigra	brain
23	chr3:150125000-150129200	Active TSS	Duodenum Mucosa	Duodenum
24	chr3:150125000-150130200	Active TSS	Brain Anterior Caudate	brain
25	chr3:150125000-150130400	Active TSS	Liver	Liver
26	chr3:150125000-150130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:150125000-150130600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr3:150125000-150130600	Active TSS	Psoas Muscle	Psoas
29	chr3:150125000-150130800	Active TSS	Rectal Smooth Muscle	rectum
30	chr3:150125000-150131200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr3:150125000-150131200	Active TSS	Placenta	Placenta
32	chr3:150125000-150131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:150125000-150132400	Active TSS	Fetal Stomach	stomach
34	chr3:150125000-150132600	Active TSS	HSMMtube	muscle
35	chr3:150125000-150132800	Active TSS	Fetal Intestine Large	intestine
36	chr3:150125000-150133200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr3:150125000-150137400	Active TSS	GM12878-XiMat	blood
38	chr3:150125200-150126400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:150125200-150127200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr3:150125200-150128200	Active TSS	Colonic Mucosa	Colon
41	chr3:150125200-150128400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:150125200-150128400	Active TSS	Osteobl	bone
43	chr3:150125200-150128600	Active TSS	Primary T cells fromperipheralblood	blood
44	chr3:150125200-150128600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr3:150125200-150128600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr3:150125200-150128600	Active TSS	A549	lung
47	chr3:150125200-150128600	Active TSS	NHDF-Ad	bronchial
48	chr3:150125200-150128800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:150125200-150128800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr3:150125200-150129600	Active TSS	Fetal Brain Female	brain

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