Variant report

Variant	esv1818335
Chromosome Location	chr3:150122121-150128717
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	chr3:150125511-150126327	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:150124301-150126226	K562	blood:	n/a	n/a
3	ARID3A	chr3:150127989-150128080	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:150127729-150128041	K562	blood:	n/a	n/a
5	ATF1	chr3:150125828-150126516	K562	blood:	n/a	chr3:150126004-150126018
6	ATF2	chr3:150125631-150126569	GM12878	blood:	n/a	chr3:150126004-150126018 chr3:150126006-150126017
7	ATF2	chr3:150125762-150126188	GM12878	blood:	n/a	chr3:150126004-150126018 chr3:150126006-150126017
8	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
9	BACH1	chr3:150125385-150126180	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:150127838-150128052	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:150127755-150127987	K562	blood:	n/a	n/a
12	BACH1	chr3:150128576-150128894	H1-hESC	embryonic stem cell:	n/a	n/a
13	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
14	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
15	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
16	BCLAF1	chr3:150127594-150128164	GM12878	blood:	n/a	n/a
17	BCLAF1	chr3:150126665-150127304	GM12878	blood:	n/a	n/a
18	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
19	BCLAF1	chr3:150127590-150128271	GM12878	blood:	n/a	n/a
20	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
21	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
22	BHLHE40	chr3:150126144-150126359	A549	lung:	n/a	n/a
23	BHLHE40	chr3:150125396-150128322	K562	blood:	n/a	chr3:150126547-150126563
24	BHLHE40	chr3:150127679-150128165	GM12878	blood:	n/a	n/a
25	BHLHE40	chr3:150125606-150127282	HepG2	liver:	n/a	chr3:150126547-150126563
26	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
27	BHLHE40	chr3:150127541-150128389	HepG2	liver:	n/a	n/a
28	BHLHE40	chr3:150128529-150128728	GM12878	blood:	n/a	n/a
29	BRCA1	chr3:150125355-150126319	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr3:150125966-150126182	HepG2	liver:	n/a	n/a
31	BRCA1	chr3:150125959-150126737	GM12878	blood:	n/a	n/a
32	BRCA1	chr3:150125574-150126184	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr3:150126559-150126739	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr3:150127448-150128056	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr3:150125427-150126759	K562	blood:	n/a	n/a
36	CCNT2	chr3:150125508-150128806	K562	blood:	n/a	chr3:150125956-150125965 chr3:150125690-150125699 chr3:150126418-150126427
37	CEBPB	chr3:150125463-150126814	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr3:150125919-150126155	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:150127776-150127900	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr3:150125504-150126118	K562	blood:	n/a	n/a
41	CEBPB	chr3:150125799-150127179	MCF-7	breast:	n/a	n/a
42	CEBPB	chr3:150127717-150127792	K562	blood:	n/a	n/a
43	CEBPB	chr3:150127571-150128724	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr3:150125950-150126930	K562	blood:	n/a	n/a
45	CEBPD	chr3:150126579-150126891	HepG2	liver:	n/a	n/a
46	CEBPD	chr3:150125879-150126364	HepG2	liver:	n/a	n/a
47	CHD1	chr3:150127708-150128010	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr3:150125192-150128308	GM12878	blood:	n/a	chr3:150126810-150126820
49	CHD1	chr3:150128529-150129590	GM12878	blood:	n/a	n/a
50	CHD1	chr3:150126134-150126793	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150126560-150126610	GM12878	blood:	n/a
2	chr3:150126560-150126610	GM12878	blood:	n/a
3	chr3:150127556-150127606	HRCEpiC	kidney:	n/a
4	chr3:150126560-150126610	ECC-1	luminal epithelium:	n/a
5	chr3:150128679-150128729	Hepatocyte	liver:	n/a
6	chr3:150126560-150126610	SK-N-MC	brain:	n/a
7	chr3:150126535-150126585	HL-60	blood:	n/a
8	chr3:150126185-150126235	CMK	blood:	n/a
9	chr3:150125360-150125410	NHDF-neo	bronchial:	n/a
10	chr3:150126185-150126235	HepG2	liver:	n/a
11	chr3:150125360-150125410	AG04449	skin:	fetal
12	chr3:150126185-150126235	HUVEC	blood vessel:	n/a
13	chr3:150126185-150126235	T-47D	breast:	n/a
14	chr3:150126185-150126235	HL-60	blood:	n/a
15	chr3:150127772-150127822	HRPEpiC	eye:	n/a
16	chr3:150127772-150127822	AG09309	skin:	n/a
17	chr3:150126560-150126610	HAEpiC	amniotic membrane:	n/a
18	chr3:150127556-150127606	T-47D	breast:	n/a
19	chr3:150125360-150125410	NT2-D1	testis:	n/a
20	chr3:150127772-150127822	GM12891	blood:	n/a
21	chr3:150126560-150126610	MCF-7	breast:	n/a
22	chr3:150126560-150126610	GM12891	blood:	n/a
23	chr3:150128235-150128285	AG04450	lung:	fetal
24	chr3:150126535-150126585	AG10803	skin:	n/a
25	chr3:150127151-150127201	NB4	blood:	n/a
26	chr3:150126185-150126235	AG09309	skin:	n/a
27	chr3:150128679-150128729	HNPCEpiC	eye:	n/a
28	chr3:150126535-150126585	HUVEC	blood vessel:	n/a
29	chr3:150125360-150125410	GM12892	blood:	n/a
30	chr3:150126535-150126585	IMR90	lung:	fetal
31	chr3:150127151-150127201	AG09319	gingival:	n/a
32	chr3:150125360-150125410	HRE	kidney:	n/a
33	chr3:150126535-150126585	RPTEC	kidney:	n/a
34	chr3:150125500-150125550	HRPEpiC	eye:	n/a
35	chr3:150126535-150126585	NB4	blood:	n/a
36	chr3:150126535-150126585	NH-A	brain:	n/a
37	chr3:150127556-150127606	Jurkat	blood:	n/a
38	chr3:150125500-150125550	HCM	heart:	n/a
39	chr3:150125500-150125550	LNCaP	prostate:	n/a
40	chr3:150128235-150128285	Hela-S3	cervix:	n/a
41	chr3:150126560-150126610	ovcar-3	ovarian:	n/a
42	chr3:150125500-150125550	Hela-S3	cervix:	n/a
43	chr3:150127772-150127822	HCF	heart:	n/a
44	chr3:150126560-150126610	SK-N-SH	brain:	n/a
45	chr3:150127151-150127201	GM12891	blood:	n/a
46	chr3:150127151-150127201	A549	lung:	n/a
47	chr3:150125360-150125410	HNPCEpiC	eye:	n/a
48	chr3:150125500-150125550	NT2-D1	testis:	n/a
49	chr3:150125500-150125550	HAEpiC	amniotic membrane:	n/a
50	chr3:150125360-150125410	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150125721..150126332-chr6:134495386..134495999,2	Hela-S3	cervix:
2	chr3:150126129..150126641-chr9:94185758..94186438,2	Hela-S3	cervix:
3	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
4	chr1:45672068..45672603-chr3:150125909..150126562,2	Hela-S3	cervix:
5	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:
6	chr11:61582073..61582805-chr3:150126418..150126978,2	Hela-S3	cervix:
7	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
8	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
9	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
10	chr3:150106944..150109021-chr3:150126806..150128575,2	K562	blood:
11	chr2:242911446..242913304-chr3:150126973..150128473,2	MCF-7	breast:
12	chr3:150127483..150128027-chr3:150213130..150214048,2	MCF-7	breast:
13	chr11:47869483..47870186-chr3:150125929..150126438,2	HCT-116	colon:
14	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
15	chr15:65596964..65597745-chr3:150125789..150126616,2	Hela-S3	cervix:
16	chr3:150021138..150022143-chr3:150127362..150128418,4	MCF-7	breast:
17	chr3:150126380..150127131-chr7:5632123..5632652,2	Hela-S3	cervix:
18	chr19:17326167..17326754-chr3:150126165..150126968,2	Hela-S3	cervix:
19	chr3:150111194..150113689-chr3:150123124..150124651,2	MCF-7	breast:
20	chr3:150126047..150126618-chr7:123197440..123198010,2	Hela-S3	cervix:
21	chr3:150097794..150100688-chr3:150126424..150128739,2	K562	blood:
22	chr17:49198764..49199685-chr3:150127166..150127982,2	Hela-S3	cervix:
23	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
24	chr3:149529989..149530963-chr3:150125716..150126282,2	Hela-S3	cervix:
25	chr12:56511480..56512187-chr3:150126113..150126918,2	Hela-S3	cervix:
26	chr1:52870255..52870785-chr3:150125995..150126971,2	Hela-S3	cervix:
27	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
28	chr3:150126127..150126868-chrX:23801224..23801824,2	Hela-S3	cervix:
29	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
30	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
31	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
32	chr3:150030571..150033361-chr3:150126551..150128588,2	K562	blood:
33	chr11:6502596..6503357-chr3:150126285..150127148,2	Hela-S3	cervix:
34	chr11:9594863..9595467-chr3:150126368..150127357,2	Hela-S3	cervix:
35	chr3:126194258..126194803-chr3:150126403..150127134,2	Hela-S3	cervix:
36	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
37	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
38	chr3:150125965..150126743-chr7:66767157..66768127,2	Hela-S3	cervix:
39	chr3:150126707..150128602-chr3:150209463..150211558,2	MCF-7	breast:
40	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
41	chr3:150125915..150126693-chr4:7069548..7070207,2	Hela-S3	cervix:
42	chr1:1617816..1618735-chr3:150124965..150125497,2	Hela-S3	cervix:
43	chr19:55917718..55920668-chr3:150122792..150125732,2	K562	blood:
44	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
45	chr3:150120348..150122369-chr3:150175788..150177306,2	K562	blood:
46	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
47	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
48	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
49	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
50	chr1:228645408..228646124-chr3:150126162..150126716,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSC22D2-3	chr3:150123200-150123308	l_2494_chr3:150123199-150156563_testes

Variant related genes	Relation type
TSC22D2	TF binding region
TSC22D2	CpG island
ENSG00000109519	chromatin interactions
ENSG00000137960	chromatin interactions
ENSG00000244265	chromatin interactions
ENSG00000170340	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000130066	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000106610	chromatin interactions
ENSG00000134851	chromatin interactions
ENSG00000222326	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000118515	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000070087	chromatin interactions
ENSG00000070476	chromatin interactions
ENSG00000268175	chromatin interactions
ENSG00000128609	chromatin interactions
ENSG00000067601	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000244541	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000243550	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000162613	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000249700	chromatin interactions
ENSG00000134748	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000237940	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10513373	chr3:150122121-150122122	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562049074	chr3:150122138-150122139	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572438208	chr3:150122145-150122146	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541089239	chr3:150122165-150122166	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531800715	chr3:150122219-150122220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376561972	chr3:150122249-150122250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142923083	chr3:150122311-150122312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533278204	chr3:150122343-150122344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550343242	chr3:150122368-150122369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563588979	chr3:150122411-150122412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547606965	chr3:150122421-150122422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566197956	chr3:150122439-150122440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529522886	chr3:150122472-150122473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112762281	chr3:150122501-150122502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4681617	chr3:150122569-150122570	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183369624	chr3:150122572-150122573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551096165	chr3:150122574-150122575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187918274	chr3:150122604-150122605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536792202	chr3:150122610-150122611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189690504	chr3:150122619-150122620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34488745	chr3:150122638-150122639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11391412	chr3:150122664-150122665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145046514	chr3:150122665-150122666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573915043	chr3:150122672-150122673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536468049	chr3:150122722-150122723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4234378	chr3:150122830-150122831	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182911880	chr3:150122878-150122879	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs541376194	chr3:150122930-150122931	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs138069304	chr3:150122931-150122932	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs578049065	chr3:150123091-150123092	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs7618493	chr3:150123117-150123118	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs567503100	chr3:150123137-150123138	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs553993121	chr3:150123163-150123164	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs529417037	chr3:150123235-150123236	Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs533587429	chr3:150123283-150123284	Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs542813457	chr3:150123298-150123299	Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs9844735	chr3:150123353-150123354	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373474415	chr3:150123448-150123449	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs7651353	chr3:150123455-150123456	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537503189	chr3:150123471-150123472	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7621019	chr3:150123479-150123480	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs376710789	chr3:150123497-150123498	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs375097978	chr3:150123551-150123552	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs530610809	chr3:150123560-150123561	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550662757	chr3:150123593-150123594	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs567391946	chr3:150123690-150123691	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs529854220	chr3:150123723-150123724	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs376600858	chr3:150123735-150123736	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs536406191	chr3:150123838-150123839	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs553214029	chr3:150123847-150123848	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	5 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:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150121200-150122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:150121400-150122200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:150121400-150122200	Enhancers	Hela-S3	cervix
14	chr3:150121400-150122400	Enhancers	NHDF-Ad	bronchial
15	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:150121600-150122200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:150121600-150122200	Weak transcription	NHEK	skin
18	chr3:150121600-150122400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:150121600-150123600	Weak transcription	A549	lung
20	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:150121800-150122200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:150121800-150124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:150121800-150124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:150121800-150124800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:150122000-150122200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:150122000-150122200	Enhancers	HSMMtube	muscle
28	chr3:150122000-150122400	Enhancers	HMEC	breast
29	chr3:150122200-150122400	Enhancers	NHEK	skin
30	chr3:150122200-150123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:150122200-150124200	Weak transcription	HSMMtube	muscle
32	chr3:150122200-150124400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:150122200-150124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:150122200-150124800	Weak transcription	Hela-S3	cervix
35	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:150122400-150124400	Weak transcription	NHEK	skin
38	chr3:150122400-150124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:150122400-150124600	Weak transcription	HMEC	breast
40	chr3:150122400-150124600	Weak transcription	NHDF-Ad	bronchial
41	chr3:150123400-150124200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:150123600-150123800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:150123600-150123800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:150123600-150123800	Enhancers	Small Intestine	intestine
45	chr3:150123600-150123800	Enhancers	A549	lung
46	chr3:150123600-150124400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:150123600-150124600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:150123600-150125200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:150123800-150124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:150123800-150124600	Enhancers	Muscle Satellite Cultured Cells	--

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