Variant report

Variant	nsv877552
Chromosome Location	chr3:141420562-141466147
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	chr3:141456669-141457414	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:141456675-141457295	K562	blood:	n/a	n/a
3	ARID3A	chr3:141447219-141447581	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:141454102-141454287	K562	blood:	n/a	n/a
5	ARID3A	chr3:141457881-141458054	K562	blood:	n/a	n/a
6	ATF1	chr3:141456737-141457286	K562	blood:	n/a	chr3:141457012-141457026
7	ATF1	chr3:141428100-141428300	K562	blood:	n/a	n/a
8	ATF1	chr3:141454096-141454296	K562	blood:	n/a	n/a
9	ATF2	chr3:141456623-141457298	H1-hESC	embryonic stem cell:	n/a	chr3:141457014-141457025 chr3:141457012-141457026
10	ATF2	chr3:141456786-141457331	H1-hESC	embryonic stem cell:	n/a	chr3:141457014-141457025 chr3:141457012-141457026
11	ATF2	chr3:141456674-141457283	GM12878	blood:	n/a	chr3:141457014-141457025 chr3:141457012-141457026
12	ATF2	chr3:141456590-141457505	GM12878	blood:	n/a	chr3:141457014-141457025 chr3:141457012-141457026
13	ATF3	chr3:141456706-141457189	K562	blood:	n/a	chr3:141457016-141457023 chr3:141457004-141457015 chr3:141457015-141457026 chr3:141457013-141457026 chr3:141457014-141457027 chr3:141457016-141457026 chr3:141457015-141457035 chr3:141457010-141457019 chr3:141457014-141457025 chr3:141457015-141457023 chr3:141457016-141457024 chr3:141457013-141457023 chr3:141457012-141457025 chr3:141456989-141456998 chr3:141457013-141457026 chr3:141457012-141457027 chr3:141457004-141457024
14	ATF3	chr3:141456803-141457236	H1-hESC	embryonic stem cell:	n/a	chr3:141457016-141457023 chr3:141457004-141457015 chr3:141457015-141457026 chr3:141457013-141457026 chr3:141457014-141457027 chr3:141457016-141457026 chr3:141457015-141457035 chr3:141457010-141457019 chr3:141457014-141457025 chr3:141457015-141457023 chr3:141457016-141457024 chr3:141457013-141457023 chr3:141457012-141457025 chr3:141456989-141456998 chr3:141457013-141457026 chr3:141457012-141457027 chr3:141457004-141457024
15	ATF3	chr3:141456791-141457470	A549	lung:	n/a	chr3:141457016-141457023 chr3:141457004-141457015 chr3:141457015-141457026 chr3:141457013-141457026 chr3:141457014-141457027 chr3:141457016-141457026 chr3:141457015-141457035 chr3:141457010-141457019 chr3:141457014-141457025 chr3:141457015-141457023 chr3:141457016-141457024 chr3:141457013-141457023 chr3:141457012-141457025 chr3:141456989-141456998 chr3:141457013-141457026 chr3:141457012-141457027 chr3:141457004-141457024
16	ATF3	chr3:141456825-141457324	A549	lung:	n/a	chr3:141457016-141457023 chr3:141457004-141457015 chr3:141457015-141457026 chr3:141457013-141457026 chr3:141457014-141457027 chr3:141457016-141457026 chr3:141457015-141457035 chr3:141457010-141457019 chr3:141457014-141457025 chr3:141457015-141457023 chr3:141457016-141457024 chr3:141457013-141457023 chr3:141457012-141457025 chr3:141456989-141456998 chr3:141457013-141457026 chr3:141457012-141457027 chr3:141457004-141457024
17	ATF3	chr3:141456760-141457281	H1-hESC	embryonic stem cell:	n/a	chr3:141457016-141457023 chr3:141457004-141457015 chr3:141457015-141457026 chr3:141457013-141457026 chr3:141457014-141457027 chr3:141457016-141457026 chr3:141457015-141457035 chr3:141457010-141457019 chr3:141457014-141457025 chr3:141457015-141457023 chr3:141457016-141457024 chr3:141457013-141457023 chr3:141457012-141457025 chr3:141456989-141456998 chr3:141457013-141457026 chr3:141457012-141457027 chr3:141457004-141457024
18	ATF3	chr3:141428026-141428327	K562	blood:	n/a	n/a
19	BACH1	chr3:141457236-141457366	K562	blood:	n/a	n/a
20	BATF	chr3:141456813-141457348	GM12878	blood:	n/a	chr3:141457013-141457026
21	BCL3	chr3:141456906-141457597	A549	lung:	n/a	chr3:141457552-141457565 chr3:141457539-141457552 chr3:141457541-141457554
22	BCL3	chr3:141456640-141457202	A549	lung:	n/a	chr3:141456901-141456914
23	BCLAF1	chr3:141456685-141457618	GM12878	blood:	n/a	chr3:141457552-141457565 chr3:141457539-141457552 chr3:141457541-141457554 chr3:141456901-141456914
24	BHLHE40	chr3:141427311-141427462	K562	blood:	n/a	n/a
25	BHLHE40	chr3:141456835-141457984	HepG2	liver:	n/a	chr3:141457546-141457562 chr3:141457544-141457560 chr3:141457538-141457554
26	BHLHE40	chr3:141456762-141458060	GM12878	blood:	n/a	chr3:141457546-141457562 chr3:141457544-141457560 chr3:141457538-141457554
27	BHLHE40	chr3:141428053-141428288	K562	blood:	n/a	n/a
28	BHLHE40	chr3:141456679-141458054	K562	blood:	n/a	chr3:141457546-141457562 chr3:141457544-141457560 chr3:141457538-141457554
29	BRCA1	chr3:141456838-141457300	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr3:141456687-141457804	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:141459057-141459077	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:141456859-141457342	HepG2	liver:	n/a	n/a
33	BRCA1	chr3:141456892-141457134	GM12878	blood:	n/a	n/a
34	CBX3	chr3:141456621-141457471	K562	blood:	n/a	n/a
35	CCNT2	chr3:141456689-141457817	K562	blood:	n/a	chr3:141457733-141457742
36	CCNT2	chr3:141453662-141454336	K562	blood:	n/a	n/a
37	CEBPB	chr3:141429005-141429205	K562	blood:	n/a	chr3:141429167-141429178 chr3:141429167-141429180
38	CEBPB	chr3:141456967-141457878	K562	blood:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
39	CEBPB	chr3:141456867-141457753	H1-hESC	embryonic stem cell:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
40	CEBPB	chr3:141456763-141457950	A549	lung:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
41	CEBPB	chr3:141429024-141429332	A549	lung:	n/a	chr3:141429167-141429178 chr3:141429167-141429180
42	CEBPB	chr3:141457308-141457793	HepG2	liver:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457565-141457578
43	CEBPB	chr3:141456865-141457769	HepG2	liver:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
44	CEBPB	chr3:141457415-141457703	HepG2	liver:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457565-141457578
45	CEBPB	chr3:141456835-141457850	K562	blood:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
46	CEBPB	chr3:141457361-141457823	A549	lung:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457565-141457578
47	CEBPB	chr3:141457288-141457938	MCF-7	breast:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457565-141457578
48	CEBPB	chr3:141456829-141457936	IMR90	lung:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578
49	CEBPB	chr3:141457423-141457749	K562	blood:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457565-141457578
50	CEBPB	chr3:141456711-141458024	Hela-S3	cervix:	n/a	chr3:141457567-141457576 chr3:141457566-141457577 chr3:141457036-141457044 chr3:141457565-141457578

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141460046-141460096	HIPEpiC	eye:	n/a
2	chr3:141456882-141456932	NT2-D1	testis:	n/a
3	chr3:141456799-141456849	PANC-1	pancreas:	n/a
4	chr3:141455371-141455421	NHDF-neo	bronchial:	n/a
5	chr3:141456799-141456849	ovcar-3	ovarian:	n/a
6	chr3:141427158-141427208	IMR90	lung:	fetal
7	chr3:141456882-141456932	HUVEC	blood vessel:	n/a
8	chr3:141457315-141457365	SK-N-SH_RA	brain:	n/a
9	chr3:141457873-141457923	GM06990	blood:	n/a
10	chr3:141453514-141453564	AoSMC	blood vessel:	n/a
11	chr3:141460046-141460096	HRPEpiC	eye:	n/a
12	chr3:141456305-141456355	GM12891	blood:	n/a
13	chr3:141457315-141457365	ECC-1	luminal epithelium:	n/a
14	chr3:141457364-141457414	SAEC	small airway:	n/a
15	chr3:141453514-141453564	HCM	heart:	n/a
16	chr3:141457873-141457923	HCPEpiC	choroid plexus:	n/a
17	chr3:141464363-141464413	HRE	kidney:	n/a
18	chr3:141456305-141456355	U87	brain:	n/a
19	chr3:141460046-141460096	BJ	skin:	n/a
20	chr3:141456847-141456897	AG10803	skin:	n/a
21	chr3:141456847-141456897	HMEC	breast:	n/a
22	chr3:141457873-141457923	GM12891	blood:	n/a
23	chr3:141457364-141457414	SK-N-MC	brain:	n/a
24	chr3:141457873-141457923	SK-N-SH_RA	brain:	n/a
25	chr3:141456882-141456932	NHBE	bronchial:	n/a
26	chr3:141456799-141456849	AG09309	skin:	n/a
27	chr3:141455371-141455421	HAEpiC	amniotic membrane:	n/a
28	chr3:141453514-141453564	SKMC	muscle:	n/a
29	chr3:141457385-141457435	AG04450	lung:	fetal
30	chr3:141457315-141457365	HepG2	liver:	n/a
31	chr3:141456847-141456897	U87	brain:	n/a
32	chr3:141464363-141464413	PANC-1	pancreas:	n/a
33	chr3:141456799-141456849	HEK293	kidney:	embryo
34	chr3:141460046-141460096	A549	lung:	n/a
35	chr3:141456882-141456932	AG09319	gingival:	n/a
36	chr3:141457315-141457365	CMK	blood:	n/a
37	chr3:141456799-141456849	MCF-7	breast:	n/a
38	chr3:141456882-141456932	ECC-1	luminal epithelium:	n/a
39	chr3:141455371-141455421	SK-N-MC	brain:	n/a
40	chr3:141457093-141457143	MCF10A-Er-Src	breast:	n/a
41	chr3:141457093-141457143	BE2_C	brain:	n/a
42	chr3:141457315-141457365	K562	blood:	n/a
43	chr3:141460046-141460096	SAEC	small airway:	n/a
44	chr3:141457315-141457365	ovcar-3	ovarian:	n/a
45	chr3:141456305-141456355	HAEpiC	amniotic membrane:	n/a
46	chr3:141456799-141456849	HRCEpiC	kidney:	n/a
47	chr3:141457093-141457143	SK-N-SH_RA	brain:	n/a
48	chr3:141455371-141455421	ECC-1	luminal epithelium:	n/a
49	chr3:141456882-141456932	HRPEpiC	eye:	n/a
50	chr3:141427158-141427208	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:141447929..141448848-chr3:141594025..141594528,2	K562	blood:
2	chr3:141448745..141449381-chr3:141457616..141458482,2	K562	blood:
3	chr3:141452326..141454943-chr3:141456910..141459390,2	K562	blood:
4	chr3:141296059..141299037-chr3:141450864..141452566,2	K562	blood:
5	chr3:141431564..141434274-chr3:141437532..141440323,2	K562	blood:
6	chr3:141444902..141447565-chr3:141453694..141455586,2	MCF-7	breast:
7	chr3:141446591..141448245-chr3:141595484..141597155,2	K562	blood:
8	chr3:141431564..141434274-chr3:141437532..141440323,2	K562	blood:
9	chr3:141455463..141459614-chr3:141593520..141599146,20	K562	blood:
10	chr3:141444120..141447835-chr3:141448243..141451709,3	K562	blood:
11	chr3:141378869..141381397-chr3:141457213..141459259,2	MCF-7	breast:
12	chr3:141465579..141467291-chr3:141595390..141597860,3	MCF-7	breast:
13	chr3:141457369..141459692-chr3:141539013..141541965,2	MCF-7	breast:
14	chr3:141456347..141457648-chr3:141594019..141595007,11	MCF-7	breast:
15	chr3:141460791..141464587-chr3:141594120..141597016,3	MCF-7	breast:
16	chr3:141459822..141461407-chr3:141463215..141465670,2	MCF-7	breast:
17	chr3:141357032..141359290-chr3:141454667..141456901,2	K562	blood:
18	chr3:141451573..141455398-chr3:141593572..141596886,4	MCF-7	breast:
19	chr3:141459507..141461128-chr3:141567527..141569442,2	K562	blood:
20	chr3:141425671..141427483-chr3:141436291..141438702,2	K562	blood:
21	chr3:141425671..141427483-chr3:141436291..141438702,2	K562	blood:
22	chr3:141441709..141443563-chr3:141446337..141449621,3	K562	blood:
23	chr3:141456676..141459122-chr3:141866884..141869547,2	MCF-7	breast:
24	chr3:141456324..141457198-chr3:141594736..141595366,2	Hela-S3	cervix:
25	chr20:26189934..26190604-chr3:141461091..141462091,2	MCF-7	breast:
26	chr3:141455674..141460093-chr3:141592801..141597430,19	MCF-7	breast:
27	chr3:141436538..141439301-chr3:141454810..141457754,2	K562	blood:
28	chr3:141455584..141459326-chr3:141464266..141467931,6	MCF-7	breast:
29	chr3:141451116..141452922-chr3:141454419..141455938,2	MCF-7	breast:
30	chr3:141443367..141446086-chr3:141455841..141457503,2	MCF-7	breast:
31	chr3:141448211..141448741-chr3:141631734..141632300,2	MCF-7	breast:
32	chr3:141457377..141459578-chr3:141597906..141599752,2	MCF-7	breast:
33	chr3:141432454..141434038-chr3:141435133..141437392,2	K562	blood:
34	chr3:141456960..141457566-chr3:141595354..141595954,2	K562	blood:
35	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:
36	chr3:141432454..141434038-chr3:141435133..141437392,2	K562	blood:
37	chr16:29817431..29818176-chr3:141458193..141458736,2	Hela-S3	cervix:
38	chr3:141452889..141455273-chr3:141594959..141597402,2	K562	blood:
39	chr3:141448745..141449381-chr3:141457616..141458482,2	K562	blood:
40	chr3:141455466..141460652-chr3:141593125..141598625,15	K562	blood:
41	chr3:141448547..141453826-chr3:141453982..141458606,7	K562	blood:
42	chr3:141455584..141459326-chr3:141464266..141467931,6	MCF-7	breast:
43	chr3:141444902..141447565-chr3:141453694..141455586,2	MCF-7	breast:
44	chr3:141456656..141457567-chr3:141593967..141595178,5	K562	blood:
45	chr3:141451116..141452922-chr3:141454419..141455938,2	MCF-7	breast:
46	chr15:75248806..75249569-chr3:141456730..141457559,2	Hela-S3	cervix:
47	chr3:141465951..141468871-chr3:141594355..141596812,2	K562	blood:
48	chr3:141440890..141443563-chr3:141445527..141449621,6	K562	blood:
49	chr3:141458745..141461557-chr3:141613414..141615464,2	K562	blood:
50	chr3:141440227..141443117-chr3:141456861..141459453,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRK7-1	chr3:141464684-141464961	NONHSAT092440
2	lnc-TFDP2-9	chr3:141427858-141428099	NONHSAT092439
3	lnc-GRK7-1	chr3:141465097-141465236	NONHSAT092440
4	lnc-TFDP2-9	chr3:141428405-141428674	NONHSAT092439

Variant related genes	Relation type
RNF7	TF binding region
TPT1P3	TF binding region
ENSG00000241526	TF binding region
RNF7	CpG island
TPT1P3	CpG island
ENSG00000241526	CpG island
ENSG00000114126	chromatin interactions
ENSG00000069849	chromatin interactions
ENSG00000114125	chromatin interactions
ENSG00000155903	chromatin interactions
ENSG00000198794	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000241526	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000103495	chromatin interactions

Extended variants
information (count: 1626 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1626 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9882031	chr3:141420562-141420563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112675644	chr3:141420565-141420566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9824350	chr3:141420575-141420576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144941585	chr3:141420586-141420587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557078661	chr3:141420599-141420600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559027827	chr3:141420624-141420625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189603295	chr3:141420657-141420658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567767442	chr3:141420669-141420670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56125613	chr3:141420688-141420689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554005776	chr3:141420694-141420695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572174957	chr3:141420702-141420703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78675991	chr3:141420709-141420710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557782820	chr3:141420722-141420723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561245535	chr3:141420747-141420748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181181514	chr3:141420753-141420754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76292977	chr3:141420773-141420774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72998377	chr3:141420799-141420800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561387903	chr3:141420837-141420838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67167142	chr3:141420878-141420879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138819951	chr3:141420903-141420904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186821154	chr3:141420925-141420926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192022593	chr3:141420965-141420966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116094993	chr3:141420982-141420983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563828188	chr3:141420988-141420989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547837380	chr3:141421037-141421038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60317204	chr3:141421062-141421063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567708059	chr3:141421080-141421081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372365343	chr3:141421090-141421091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182810538	chr3:141421108-141421109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs36109988	chr3:141421111-141421112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73870321	chr3:141421115-141421116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532108046	chr3:141421135-141421136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539277477	chr3:141421136-141421137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551868410	chr3:141421153-141421154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558998176	chr3:141421154-141421155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536996390	chr3:141421161-141421162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115392155	chr3:141421162-141421163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573338074	chr3:141421168-141421169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79671762	chr3:141421172-141421173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552817026	chr3:141421173-141421174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547839002	chr3:141421215-141421216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56061843	chr3:141421216-141421217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111641340	chr3:141421231-141421232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550426068	chr3:141421267-141421268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563945094	chr3:141421272-141421273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186454282	chr3:141421280-141421281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138780950	chr3:141421326-141421327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543371042	chr3:141421328-141421329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371140185	chr3:141421366-141421367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552050261	chr3:141421374-141421375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141402200-141420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:141416400-141429800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:141416600-141421600	Enhancers	K562	blood
4	chr3:141420800-141421400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:141425400-141427800	Enhancers	Lung	lung
6	chr3:141425400-141433000	Enhancers	HUVEC	blood vessel
7	chr3:141425800-141427600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:141426000-141427600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:141426000-141427600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:141426200-141426400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:141426200-141427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:141426200-141427200	Enhancers	NHLF	lung
13	chr3:141426200-141427400	Enhancers	HSMM	muscle
14	chr3:141426200-141427400	Enhancers	Osteobl	bone
15	chr3:141426200-141427600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:141426200-141427600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:141426200-141427600	Enhancers	HSMMtube	muscle
18	chr3:141426200-141427600	Enhancers	NHDF-Ad	bronchial
19	chr3:141426200-141431800	Enhancers	Placenta	Placenta
20	chr3:141426400-141426600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:141426400-141427200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:141426400-141427400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:141426400-141427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:141426400-141427600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:141426400-141427600	Enhancers	NH-A	brain
26	chr3:141426600-141427000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:141426600-141427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:141426600-141427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:141426600-141427200	Enhancers	HMEC	breast
30	chr3:141426600-141427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:141426600-141427600	Enhancers	Fetal Kidney	kidney
32	chr3:141426800-141427200	Enhancers	Primary hematopoietic stem cells	blood
33	chr3:141426800-141427200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:141426800-141427200	Enhancers	Duodenum Mucosa	Duodenum
35	chr3:141426800-141427400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:141426800-141427600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:141427000-141427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:141427000-141427600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:141427000-141429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:141427200-141427600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:141427200-141427600	Enhancers	Primary B cells from cord blood	blood
42	chr3:141427200-141429600	Weak transcription	HMEC	breast
43	chr3:141427200-141429600	Weak transcription	NHLF	lung
44	chr3:141427200-141429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:141427200-141430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:141427400-141429600	Weak transcription	Osteobl	bone
47	chr3:141427400-141429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:141427400-141429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:141427400-141429800	Weak transcription	HSMM	muscle
50	chr3:141427600-141428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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