Variant report

Variant	nsv437343
Chromosome Location	chr3:142607487-142622834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:796)
Chromatin interactive
region (count:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:142607185-142607692	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr3:142607083-142608248	H1-hESC	embryonic stem cell:	n/a	n/a
3	CCNT2	chr3:142607960-142608143	K562	blood:	n/a	n/a
4	CCNT2	chr3:142607354-142607661	K562	blood:	n/a	n/a
5	CEBPB	chr3:142613503-142613739	K562	blood:	n/a	n/a
6	CEBPB	chr3:142607397-142607556	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr3:142609598-142609811	K562	blood:	n/a	chr3:142609726-142609739 chr3:142609726-142609737 chr3:142609726-142609739 chr3:142609726-142609739 chr3:142609728-142609739
8	CEBPB	chr3:142615126-142615385	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr3:142609712-142609819	HepG2	liver:	n/a	chr3:142609726-142609739 chr3:142609726-142609737 chr3:142609726-142609739 chr3:142609726-142609739 chr3:142609728-142609739
10	CEBPB	chr3:142606972-142607916	Hela-S3	cervix:	n/a	n/a
11	CHD1	chr3:142607108-142607515	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr3:142607031-142608128	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr3:142608010-142608072	HepG2	liver:	n/a	n/a
14	CHD2	chr3:142606999-142608069	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr3:142607358-142607738	HepG2	liver:	n/a	n/a
16	CREB1	chr3:142607319-142607726	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr3:142606929-142607790	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr3:142607015-142607495	A549	lung:	n/a	n/a
19	CREB1	chr3:142607682-142608148	A549	lung:	n/a	n/a
20	CTBP2	chr3:142607012-142608279	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:142607360-142607510	A549	lung:	n/a	n/a
22	CTCF	chr3:142607620-142607770	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr3:142608220-142608370	GM12871	blood:	n/a	n/a
24	CTCF	chr3:142607600-142607750	GM12873	blood:	n/a	n/a
25	CTCF	chr3:142607340-142607490	BE2_C	brain:	n/a	n/a
26	CTCF	chr3:142607860-142608010	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr3:142607360-142607510	GM12875	blood:	n/a	n/a
28	CTCF	chr3:142607340-142607490	AG04449	skin:	n/a	n/a
29	CTCF	chr3:142607400-142607550	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr3:142607540-142607690	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr3:142607820-142607970	AG09319	gingival:	n/a	n/a
32	CTCF	chr3:142607280-142607550	GM12871	blood:	n/a	n/a
33	CTCF	chr3:142608060-142608210	AG04449	skin:	n/a	chr3:142608082-142608095
34	CTCF	chr3:142607739-142607886	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:142607480-142607630	GM12864	blood:	n/a	n/a
36	CTCF	chr3:142607360-142607510	AG09309	skin:	n/a	n/a
37	CTCF	chr3:142607360-142607510	HRE	kidney:	n/a	n/a
38	CTCF	chr3:142607740-142607890	NHEK	skin:	n/a	n/a
39	CTCF	chr3:142607440-142607590	A549	lung:	n/a	n/a
40	CTCF	chr3:142607740-142607890	AG04449	skin:	n/a	n/a
41	CTCF	chr3:142607690-142607751	A549	lung:	n/a	n/a
42	CTCF	chr3:142607400-142607550	GM06990	blood:	n/a	n/a
43	CTCF	chr3:142607340-142607490	Caco-2	colon:	n/a	n/a
44	CTCF	chr3:142607940-142608090	HCPEpiC	choroid plexus:	n/a	chr3:142608047-142608060
45	CTCF	chr3:142607800-142607950	GM12873	blood:	n/a	n/a
46	CTCF	chr3:142607695-142607717	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:142608000-142608150	SK-N-SH_RA	brain:	n/a	chr3:142608047-142608060 chr3:142608082-142608095
48	E2F1	chr3:142607199-142608071	Hela-S3	cervix:	n/a	chr3:142607723-142607734 chr3:142608047-142608057
49	E2F4	chr3:142615192-142615336	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F6	chr3:142606832-142608269	A549	lung:	n/a	chr3:142608047-142608057

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142608228-142608278	SK-N-SH	brain:	n/a
2	chr3:142608228-142608278	HL-60	blood:	n/a
3	chr3:142607939-142607989	AG09319	gingival:	n/a
4	chr3:142608228-142608278	SK-N-SH	brain:	n/a
5	chr3:142608228-142608278	HL-60	blood:	n/a
6	chr3:142607939-142607989	AG09319	gingival:	n/a
7	chr3:142607981-142608031	NT2-D1	testis:	n/a
8	chr3:142607939-142607989	HCM	heart:	n/a
9	chr3:142610864-142610914	GM19239	blood:	n/a
10	chr3:142608898-142608948	MCF-7	breast:	n/a
11	chr3:142608228-142608278	GM12878	blood:	n/a
12	chr3:142608051-142608101	PANC-1	pancreas:	n/a
13	chr3:142607978-142608028	U87	brain:	n/a
14	chr3:142608898-142608948	NT2-D1	testis:	n/a
15	chr3:142608218-142608268	HRPEpiC	eye:	n/a
16	chr3:142607715-142607765	SK-N-MC	brain:	n/a
17	chr3:142608228-142608278	HMEC	breast:	n/a
18	chr3:142608228-142608278	T-47D	breast:	n/a
19	chr3:142608218-142608268	ProgFib	skin:	n/a
20	chr3:142607978-142608028	NH-A	brain:	n/a
21	chr3:142607799-142607849	NH-A	brain:	n/a
22	chr3:142607939-142607989	BE2_C	brain:	n/a
23	chr3:142607799-142607849	AG10803	skin:	n/a
24	chr3:142607978-142608028	HCF	heart:	n/a
25	chr3:142608063-142608113	PFSK-1	brain:	n/a
26	chr3:142608898-142608948	HNPCEpiC	eye:	n/a
27	chr3:142607939-142607989	HRE	kidney:	n/a
28	chr3:142607799-142607849	RPTEC	kidney:	n/a
29	chr3:142608228-142608278	U87	brain:	n/a
30	chr3:142608218-142608268	HCPEpiC	choroid plexus:	n/a
31	chr3:142608051-142608101	U87	brain:	n/a
32	chr3:142607981-142608031	ProgFib	skin:	n/a
33	chr3:142610864-142610914	MCF-7	breast:	n/a
34	chr3:142608218-142608268	AG10803	skin:	n/a
35	chr3:142607511-142607561	HEEpiC	esophagus:	n/a
36	chr3:142607715-142607765	AG10803	skin:	n/a
37	chr3:142607715-142607765	HIPEpiC	eye:	n/a
38	chr3:142607939-142607989	NB4	blood:	n/a
39	chr3:142607978-142608028	HRPEpiC	eye:	n/a
40	chr3:142608051-142608101	HAEpiC	amniotic membrane:	n/a
41	chr3:142608037-142608087	GM12878	blood:	n/a
42	chr3:142607939-142607989	HRCEpiC	kidney:	n/a
43	chr3:142607511-142607561	CMK	blood:	n/a
44	chr3:142608051-142608101	Jurkat	blood:	n/a
45	chr3:142607715-142607765	SKMC	muscle:	n/a
46	chr3:142608037-142608087	HMEC	breast:	n/a
47	chr3:142608063-142608113	SKMC	muscle:	n/a
48	chr3:142607715-142607765	HNPCEpiC	eye:	n/a
49	chr3:142607715-142607765	H1-hESC	embryonic stem cell:	embryo
50	chr3:142608037-142608087	PrEC	prostate:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142296468..142299283-chr3:142609997..142611852,2	MCF-7	breast:
2	chr3:142611367..142612951-chr3:142614638..142616165,2	MCF-7	breast:
3	chr3:142612125..142613700-chr3:142616630..142618763,2	K562	blood:
4	chr3:142612125..142613700-chr3:142616630..142618763,2	K562	blood:
5	chr3:142598080..142600621-chr3:142609257..142610987,2	K562	blood:
6	chr3:142609483..142612071-chr3:142616369..142619084,2	K562	blood:
7	chr3:142617377..142619183-chr3:142718490..142721454,2	K562	blood:
8	chr3:142606684..142610842-chr3:142612134..142615334,5	MCF-7	breast:
9	chr3:142613521..142615754-chr3:142620913..142622791,2	K562	blood:
10	chr3:142611367..142612951-chr3:142614638..142616165,2	MCF-7	breast:
11	chr3:142606798..142610492-chr3:142610655..142614860,4	K562	blood:
12	chr3:142613521..142615754-chr3:142620913..142622791,2	K562	blood:
13	chr3:142609483..142612071-chr3:142616369..142619084,2	K562	blood:
14	chr3:73160087..73160608-chr3:142607224..142607863,2	Hela-S3	cervix:
15	chr3:142605846..142608751-chr3:142718093..142722238,5	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR9-3	chr3:142607656-142607769	NONHSAT092489
2	lnc-PAQR9-3	chr3:142607501-142607587	NONHSAT092488
3	lnc-PAQR9-3	chr3:142607656-142607864	NONHSAT092487

No data

Variant related genes	Relation type
PCOLCE2	TF binding region
PCOLCE2	CpG island
ENSG00000163714	chromatin interactions
ENSG00000268129	chromatin interactions
ENSG00000163710	chromatin interactions
ENSG00000175054	chromatin interactions
ENSG00000223247	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1457684	chr3:142607487-142607488	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190294825	chr3:142607488-142607489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs559412410	chr3:142607521-142607522	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs576839362	chr3:142607585-142607586	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs533213435	chr3:142607592-142607593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs181434421	chr3:142607593-142607594	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs563505143	chr3:142607606-142607607	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371370029	chr3:142607625-142607626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs28401218	chr3:142607626-142607627	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs374478289	chr3:142607655-142607656	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368648610	chr3:142607702-142607703	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs530947479	chr3:142607707-142607708	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs371874554	chr3:142607715-142607716	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs202134327	chr3:142607735-142607736	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs529093830	chr3:142607738-142607739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs369736971	chr3:142607745-142607746	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs372026535	chr3:142607758-142607759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs35783198	chr3:142607767-142607768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557851786	chr3:142607768-142607769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs569536091	chr3:142607770-142607771	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs565486224	chr3:142607792-142607793	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs555637565	chr3:142607809-142607810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs574034893	chr3:142607812-142607813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs113870461	chr3:142607853-142607854	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs113839945	chr3:142607898-142607899	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs367890781	chr3:142607969-142607970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs543045272	chr3:142607994-142607995	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2196900	chr3:142608087-142608088	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578139570	chr3:142608099-142608100	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545135332	chr3:142608137-142608138	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563837509	chr3:142608219-142608220	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs575525393	chr3:142608295-142608296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs16846865	chr3:142608365-142608366	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs376914252	chr3:142608401-142608402	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs543088652	chr3:142608416-142608417	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs16852779	chr3:142608431-142608432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35158420	chr3:142608455-142608456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs529157029	chr3:142608486-142608487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs547737768	chr3:142608487-142608488	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs148759762	chr3:142608513-142608514	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142425981	chr3:142608551-142608552	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545864783	chr3:142608607-142608608	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569779686	chr3:142608689-142608690	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536634544	chr3:142608777-142608778	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56788897	chr3:142608840-142608841	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186258584	chr3:142608877-142608878	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534955885	chr3:142608899-142608900	Weak transcription Active TSS Enhancers Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs56193142	chr3:142608944-142608945	Weak transcription Active TSS Enhancers Flanking Active TSS	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs578097424	chr3:142608956-142608957	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150903930	chr3:142609007-142609008	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142606000-142607800	Active TSS	Right Atrium	heart
2	chr3:142606400-142608200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:142606600-142608600	Active TSS	Right Ventricle	heart
4	chr3:142606600-142609000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:142606800-142607600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr3:142606800-142607600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr3:142606800-142607600	Flanking Active TSS	Osteobl	bone
8	chr3:142606800-142608000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:142606800-142608200	Active TSS	K562	blood
10	chr3:142606800-142608400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr3:142606800-142608400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:142606800-142608400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:142606800-142608400	Active TSS	A549	lung
14	chr3:142606800-142608600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr3:142606800-142608600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:142606800-142608800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:142607000-142607600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:142607000-142607600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:142607000-142607600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:142607000-142607600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr3:142607000-142607600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr3:142607000-142607600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
23	chr3:142607000-142607600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr3:142607000-142607600	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr3:142607000-142607600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr3:142607000-142607600	Flanking Active TSS	NH-A	brain
27	chr3:142607000-142607600	Flanking Active TSS	NHEK	skin
28	chr3:142607000-142607800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
29	chr3:142607000-142607800	Flanking Active TSS	Liver	Liver
30	chr3:142607000-142607800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr3:142607000-142607800	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr3:142607000-142607800	Flanking Active TSS	HMEC	breast
33	chr3:142607000-142608000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr3:142607000-142608000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr3:142607000-142608000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr3:142607000-142608000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr3:142607000-142608200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:142607000-142608200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr3:142607000-142608200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr3:142607000-142608200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr3:142607000-142608200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr3:142607000-142608200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr3:142607000-142608200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:142607000-142608200	Bivalent/Poised TSS	Esophagus	oesophagus
45	chr3:142607000-142608200	Active TSS	Fetal Heart	heart
46	chr3:142607000-142608200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr3:142607000-142608400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:142607000-142608400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr3:142607000-142608400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr3:142607000-142608400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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