Variant report

Variant	esv14316
Chromosome Location	chr3:150124574-150128485
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	chr3:150127989-150128080	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:150124301-150126226	K562	blood:	n/a	n/a
3	ARID3A	chr3:150127729-150128041	K562	blood:	n/a	n/a
4	ARID3A	chr3:150125511-150126327	HepG2	liver:	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	chr3:150127755-150127987	K562	blood:	n/a	n/a
10	BACH1	chr3:150125385-150126180	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:150127838-150128052	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	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
14	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
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	chr3:150125952-150126893	K562	blood:	n/a	chr3:150126308-150126321 chr3:150126202-150126211 chr3:150125996-150126005 chr3:150126314-150126323 chr3:150126555-150126568 chr3:150126311-150126320
17	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
18	BCLAF1	chr3:150127594-150128164	GM12878	blood:	n/a	n/a
19	BCLAF1	chr3:150127590-150128271	GM12878	blood:	n/a	n/a
20	BCLAF1	chr3:150126665-150127304	GM12878	blood:	n/a	n/a
21	BHLHE40	chr3:150125396-150128322	K562	blood:	n/a	chr3:150126547-150126563
22	BHLHE40	chr3:150127541-150128389	HepG2	liver:	n/a	n/a
23	BHLHE40	chr3:150125606-150127282	HepG2	liver:	n/a	chr3:150126547-150126563
24	BHLHE40	chr3:150127679-150128165	GM12878	blood:	n/a	n/a
25	BHLHE40	chr3:150126144-150126359	A549	lung:	n/a	n/a
26	BHLHE40	chr3:150125326-150127114	GM12878	blood:	n/a	chr3:150126547-150126563
27	BRCA1	chr3:150126559-150126739	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr3:150125959-150126737	GM12878	blood:	n/a	n/a
29	BRCA1	chr3:150125574-150126184	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr3:150127448-150128056	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr3:150125966-150126182	HepG2	liver:	n/a	n/a
32	BRCA1	chr3:150125355-150126319	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr3:150125427-150126759	K562	blood:	n/a	n/a
34	CCNT2	chr3:150125508-150128806	K562	blood:	n/a	chr3:150125956-150125965 chr3:150125690-150125699 chr3:150126418-150126427
35	CEBPB	chr3:150125463-150126814	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:150127571-150128724	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr3:150125799-150127179	MCF-7	breast:	n/a	n/a
38	CEBPB	chr3:150125504-150126118	K562	blood:	n/a	n/a
39	CEBPB	chr3:150125919-150126155	HepG2	liver:	n/a	n/a
40	CEBPB	chr3:150127776-150127900	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr3:150127717-150127792	K562	blood:	n/a	n/a
42	CEBPD	chr3:150126579-150126891	HepG2	liver:	n/a	n/a
43	CEBPD	chr3:150125879-150126364	HepG2	liver:	n/a	n/a
44	CEBPD	chr3:150125950-150126930	K562	blood:	n/a	n/a
45	CHD1	chr3:150125192-150128308	GM12878	blood:	n/a	chr3:150126810-150126820
46	CHD1	chr3:150124409-150133231	IMR90	lung:	n/a	chr3:150126810-150126820
47	CHD1	chr3:150127708-150128010	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr3:150126134-150126793	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr3:150125337-150128890	Hela-S3	cervix:	n/a	chr3:150126810-150126820
50	CHD2	chr3:150125896-150126686	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:150127151-150127201	BJ	skin:	n/a
2	chr3:150127151-150127201	BJ	skin:	n/a
3	chr3:150126535-150126585	GM06990	blood:	n/a
4	chr3:150125500-150125550	NB4	blood:	n/a
5	chr3:150127151-150127201	PFSK-1	brain:	n/a
6	chr3:150126185-150126235	NH-A	brain:	n/a
7	chr3:150126535-150126585	PFSK-1	brain:	n/a
8	chr3:150127556-150127606	HepG2	liver:	n/a
9	chr3:150125360-150125410	ECC-1	luminal epithelium:	n/a
10	chr3:150126185-150126235	Caco-2	colon:	n/a
11	chr3:150128235-150128285	HNPCEpiC	eye:	n/a
12	chr3:150127151-150127201	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:150127151-150127201	AG04449	skin:	fetal
14	chr3:150125500-150125550	ovcar-3	ovarian:	n/a
15	chr3:150126535-150126585	GM12891	blood:	n/a
16	chr3:150126560-150126610	A549	lung:	n/a
17	chr3:150126560-150126610	NH-A	brain:	n/a
18	chr3:150127151-150127201	HRPEpiC	eye:	n/a
19	chr3:150126535-150126585	SKMC	muscle:	n/a
20	chr3:150126185-150126235	ProgFib	skin:	n/a
21	chr3:150125500-150125550	HNPCEpiC	eye:	n/a
22	chr3:150127772-150127822	HPAEpiC	pulmonary alveolar:	n/a
23	chr3:150127151-150127201	PrEC	prostate:	n/a
24	chr3:150125360-150125410	T-47D	breast:	n/a
25	chr3:150125500-150125550	AG04450	lung:	fetal
26	chr3:150126535-150126585	HCT-116	colon:	n/a
27	chr3:150125360-150125410	HAEpiC	amniotic membrane:	n/a
28	chr3:150127772-150127822	HCPEpiC	choroid plexus:	n/a
29	chr3:150126185-150126235	HIPEpiC	eye:	n/a
30	chr3:150127772-150127822	NHBE	bronchial:	n/a
31	chr3:150127556-150127606	GM19239	blood:	n/a
32	chr3:150125360-150125410	HRPEpiC	eye:	n/a
33	chr3:150127772-150127822	HL-60	blood:	n/a
34	chr3:150125360-150125410	BE2_C	brain:	n/a
35	chr3:150126535-150126585	HAEpiC	amniotic membrane:	n/a
36	chr3:150127772-150127822	HepG2	liver:	n/a
37	chr3:150127151-150127201	K562	blood:	n/a
38	chr3:150126185-150126235	IMR90	lung:	fetal
39	chr3:150126185-150126235	HCPEpiC	choroid plexus:	n/a
40	chr3:150125360-150125410	K562	blood:	n/a
41	chr3:150128235-150128285	BJ	skin:	n/a
42	chr3:150126185-150126235	BE2_C	brain:	n/a
43	chr3:150128235-150128285	ProgFib	skin:	n/a
44	chr3:150125500-150125550	HCF	heart:	n/a
45	chr3:150126560-150126610	CMK	blood:	n/a
46	chr3:150125360-150125410	Hela-S3	cervix:	n/a
47	chr3:150127556-150127606	SK-N-SH	brain:	n/a
48	chr3:150126535-150126585	RPTEC	kidney:	n/a
49	chr3:150126560-150126610	T-47D	breast:	n/a
50	chr3:150125500-150125550	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150126129..150126641-chr9:94185758..94186438,2	Hela-S3	cervix:
2	chr1:52870255..52870785-chr3:150125995..150126971,2	Hela-S3	cervix:
3	chr3:149529989..149530963-chr3:150125716..150126282,2	Hela-S3	cervix:
4	chr3:150124105..150129008-chr3:150174357..150179992,6	MCF-7	breast:
5	chr3:150124642..150128245-chr3:150263775..150265951,4	K562	blood:
6	chr15:65596964..65597745-chr3:150125789..150126616,2	Hela-S3	cervix:
7	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
8	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
9	chr3:150127483..150128027-chr3:150213130..150214048,2	MCF-7	breast:
10	chr3:150125965..150126743-chr7:66767157..66768127,2	Hela-S3	cervix:
11	chr3:126194258..126194803-chr3:150126403..150127134,2	Hela-S3	cervix:
12	chr11:61582073..61582805-chr3:150126418..150126978,2	Hela-S3	cervix:
13	chr19:55917718..55920668-chr3:150122792..150125732,2	K562	blood:
14	chr3:150125257..150128558-chr3:150478258..150482422,4	K562	blood:
15	chr1:78444323..78445294-chr3:150125728..150126525,2	Hela-S3	cervix:
16	chr3:149953695..149960076-chr3:150124777..150129995,22	MCF-7	breast:
17	chr3:150126047..150126618-chr7:123197440..123198010,2	Hela-S3	cervix:
18	chr3:150124697..150131961-chr3:150259924..150266159,12	MCF-7	breast:
19	chr3:150122822..150130151-chr3:150261910..150267967,8	K562	blood:
20	chr3:150126127..150126868-chrX:23801224..23801824,2	Hela-S3	cervix:
21	chr3:150003129..150006271-chr3:150124947..150129304,6	MCF-7	breast:
22	chr3:149953873..149961412-chr3:150123750..150131229,19	MCF-7	breast:
23	chr11:9594863..9595467-chr3:150126368..150127357,2	Hela-S3	cervix:
24	chr3:150106944..150109021-chr3:150126806..150128575,2	K562	blood:
25	chr1:1617816..1618735-chr3:150124965..150125497,2	Hela-S3	cervix:
26	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
27	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
28	chr11:6502596..6503357-chr3:150126285..150127148,2	Hela-S3	cervix:
29	chr3:150125915..150126693-chr4:7069548..7070207,2	Hela-S3	cervix:
30	chr3:150124887..150127352-chr3:150262732..150264840,2	MCF-7	breast:
31	chr17:49198764..49199685-chr3:150127166..150127982,2	Hela-S3	cervix:
32	chr1:228645408..228646124-chr3:150126162..150126716,2	Hela-S3	cervix:
33	chr3:150111194..150113689-chr3:150123124..150124651,2	MCF-7	breast:
34	chr3:150097794..150100688-chr3:150126424..150128739,2	K562	blood:
35	chr1:45672068..45672603-chr3:150125909..150126562,2	Hela-S3	cervix:
36	chr2:242911446..242913304-chr3:150126973..150128473,2	MCF-7	breast:
37	chr3:150003406..150008220-chr3:150125314..150128917,4	K562	blood:
38	chr3:150002946..150005650-chr3:150125289..150128542,3	K562	blood:
39	chr2:62421857..62423807-chr3:150125734..150127432,2	MCF-7	breast:
40	chr3:150004162..150006199-chr3:150125744..150127626,2	MCF-7	breast:
41	chr12:56511480..56512187-chr3:150126113..150126918,2	Hela-S3	cervix:
42	chr19:17326167..17326754-chr3:150126165..150126968,2	Hela-S3	cervix:
43	chr3:150030571..150033361-chr3:150126551..150128588,2	K562	blood:
44	chr3:150125609..150126516-chr4:56261520..56262416,2	HCT-116	colon:
45	chr11:47869483..47870186-chr3:150125929..150126438,2	HCT-116	colon:
46	chr3:150126380..150127131-chr7:5632123..5632652,2	Hela-S3	cervix:
47	chr3:150126707..150128602-chr3:150209463..150211558,2	MCF-7	breast:
48	chr3:149687952..149691068-chr3:150125127..150128175,3	MCF-7	breast:
49	chr3:150021138..150022143-chr3:150127362..150128418,4	MCF-7	breast:
50	chr3:150125721..150126332-chr6:134495386..134495999,2	Hela-S3	cervix:

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

Extended variants
information (count: 127 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149513205	chr3:150124631-150124632	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs566580111	chr3:150124640-150124641	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs371599438	chr3:150124690-150124691	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs376323470	chr3:150124805-150124806	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs368464626	chr3:150124863-150124864	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs558539433	chr3:150124891-150124892	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs75536986	chr3:150124894-150124895	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs537006598	chr3:150124902-150124903	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs375003625	chr3:150124915-150124916	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs184551204	chr3:150124940-150124941	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs189372361	chr3:150125010-150125011	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs542739896	chr3:150125011-150125012	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs372092271	chr3:150125069-150125070	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs553515183	chr3:150125070-150125071	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs199913784	chr3:150125096-150125097	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs201643588	chr3:150125157-150125158	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs573321029	chr3:150125173-150125174	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs34616287	chr3:150125239-150125240	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs556330009	chr3:150125306-150125307	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs368665060	chr3:150125311-150125312	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs565392518	chr3:150125329-150125330	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs3811719	chr3:150125370-150125371	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs180755225	chr3:150125377-150125378	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs543973464	chr3:150125468-150125469	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs148757026	chr3:150125486-150125487	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs74851898	chr3:150125574-150125575	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs546754139	chr3:150125579-150125580	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs142033291	chr3:150125614-150125615	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs532159848	chr3:150125689-150125690	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs370702755	chr3:150125721-150125722	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs552356659	chr3:150125759-150125760	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs569044625	chr3:150125881-150125882	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs537792186	chr3:150125898-150125899	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs562160571	chr3:150125935-150125936	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs112785381	chr3:150125960-150125961	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
36	rs550011029	chr3:150126013-150126014	Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs567355753	chr3:150126023-150126024	Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs536260945	chr3:150126080-150126081	Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs553162610	chr3:150126100-150126101	Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
40	rs184358882	chr3:150126202-150126203	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
41	rs372120631	chr3:150126273-150126274	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
42	rs573291464	chr3:150126322-150126323	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124600	Weak transcription	NHLF	lung
3	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150121800-150124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:150121800-150124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:150121800-150124800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:150122200-150124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:150122200-150124800	Weak transcription	Hela-S3	cervix
17	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:150122400-150124600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:150122400-150124600	Weak transcription	HMEC	breast
21	chr3:150122400-150124600	Weak transcription	NHDF-Ad	bronchial
22	chr3:150123600-150124600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:150123600-150125200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:150123800-150124600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:150123800-150124600	Weak transcription	A549	lung
26	chr3:150123800-150124600	Enhancers	HUVEC	blood vessel
27	chr3:150123800-150125000	Weak transcription	Small Intestine	intestine
28	chr3:150124000-150125000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:150124200-150124600	Enhancers	Fetal Lung	lung
30	chr3:150124200-150124600	Enhancers	HSMMtube	muscle
31	chr3:150124200-150124800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:150124400-150124600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:150124400-150124600	Enhancers	HSMM	muscle
34	chr3:150124400-150124600	Enhancers	K562	blood
35	chr3:150124400-150124600	Enhancers	Osteobl	bone
36	chr3:150124400-150124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:150124400-150124800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:150124400-150124800	Enhancers	NHEK	skin
39	chr3:150124400-150125200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:150124600-150124800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:150124600-150124800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:150124600-150124800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr3:150124600-150124800	Enhancers	Fetal Heart	heart
44	chr3:150124600-150124800	Enhancers	HMEC	breast
45	chr3:150124600-150124800	Flanking Active TSS	HSMM	muscle
46	chr3:150124600-150124800	Active TSS	HSMMtube	muscle
47	chr3:150124600-150125000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:150124600-150125000	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:150124600-150125000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:150124600-150125000	Enhancers	Duodenum Mucosa	Duodenum

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