Variant report

Variant	esv3437746
Chromosome Location	chr12:51611385-51615983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:427)
Chromatin interactive
region (count:38)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51611729-51612206	K562	blood:	n/a	chr12:51611853-51611861
2	ARID3A	chr12:51613209-51613540	HepG2	liver:	n/a	n/a
3	BACH1	chr12:51611780-51611873	K562	blood:	n/a	n/a
4	BCL11A	chr12:51611796-51611935	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:51611768-51612506	A549	lung:	n/a	chr12:51612063-51612072
6	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
7	BCLAF1	chr12:51611762-51612577	GM12878	blood:	n/a	chr12:51612063-51612072
8	BHLHE40	chr12:51611722-51612323	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:51611736-51612222	K562	blood:	n/a	n/a
10	BRCA1	chr12:51611739-51612315	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr12:51612098-51612407	GM12878	blood:	n/a	n/a
12	CBX3	chr12:51611691-51612362	K562	blood:	n/a	n/a
13	CBX3	chr12:51612452-51613033	K562	blood:	n/a	n/a
14	CCNT2	chr12:51610840-51612115	K562	blood:	n/a	chr12:51611947-51611956 chr12:51611953-51611962 chr12:51611376-51611385
15	CCNT2	chr12:51612358-51612850	K562	blood:	n/a	n/a
16	CEBPB	chr12:51612082-51612269	K562	blood:	n/a	n/a
17	CEBPB	chr12:51612342-51612435	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr12:51611889-51612323	Hela-S3	cervix:	n/a	n/a
19	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
20	CHD1	chr12:51612019-51612433	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr12:51611769-51612397	GM12878	blood:	n/a	n/a
22	CHD2	chr12:51611688-51612882	K562	blood:	n/a	n/a
23	CHD2	chr12:51612724-51612890	HepG2	liver:	n/a	n/a
24	CHD2	chr12:51611686-51612641	GM12878	blood:	n/a	n/a
25	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr12:51611737-51612232	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr12:51611879-51611951	HepG2	liver:	n/a	n/a
28	CREB1	chr12:51611571-51612371	GM12878	blood:	n/a	n/a
29	CREB1	chr12:51611688-51612041	ECC-1	luminal epithelium:	n/a	n/a
30	CREB1	chr12:51611613-51612296	A549	lung:	n/a	n/a
31	CTCF	chr12:51612620-51612770	HepG2	liver:	n/a	chr12:51612650-51612658
32	CTCF	chr12:51611800-51611950	GM12801	blood:	n/a	n/a
33	CTCF	chr12:51611802-51612005	GM19238	blood:	n/a	n/a
34	CTCF	chr12:51611760-51611910	K562	blood:	n/a	n/a
35	CTCF	chr12:51611800-51611950	GM12865	blood:	n/a	n/a
36	CTCF	chr12:51612240-51612390	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr12:51611820-51611970	NHEK	skin:	n/a	n/a
38	CTCF	chr12:51612820-51612970	GM12873	blood:	n/a	n/a
39	CTCF	chr12:51612280-51612430	AG09309	skin:	n/a	n/a
40	CTCF	chr12:51611826-51611944	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:51611760-51611910	RPTEC	kidney:	n/a	n/a
42	CTCF	chr12:51612140-51612290	HVMF	connective:	n/a	n/a
43	CTCF	chr12:51611780-51611930	GM12869	blood:	n/a	n/a
44	CTCF	chr12:51611831-51611894	HepG2	liver:	n/a	n/a
45	CTCF	chr12:51611800-51611950	AG04450	lung:	n/a	n/a
46	CTCF	chr12:51611860-51612010	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:51611780-51611930	AG09309	skin:	n/a	n/a
48	CTCF	chr12:51611800-51611950	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr12:51611800-51611950	GM12868	blood:	n/a	n/a
50	CTCF	chr12:51611800-51611950	AoAF	blood vessel:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51611600-51611650	HEEpiC	esophagus:	n/a
2	chr12:51611356-51611406	T-47D	breast:	n/a
3	chr12:51611600-51611650	GM12878	blood:	n/a
4	chr12:51611871-51611921	PrEC	prostate:	n/a
5	chr12:51612065-51612115	HUVEC	blood vessel:	n/a
6	chr12:51612065-51612115	ovcar-3	ovarian:	n/a
7	chr12:51612794-51612844	ProgFib	skin:	n/a
8	chr12:51611600-51611650	K562	blood:	n/a
9	chr12:51612065-51612115	PFSK-1	brain:	n/a
10	chr12:51611871-51611921	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:51612065-51612115	HL-60	blood:	n/a
12	chr12:51611600-51611650	NH-A	brain:	n/a
13	chr12:51611356-51611406	NB4	blood:	n/a
14	chr12:51611826-51611876	AG09319	gingival:	n/a
15	chr12:51614784-51614834	Hela-S3	cervix:	n/a
16	chr12:51612794-51612844	GM12891	blood:	n/a
17	chr12:51614784-51614834	SAEC	small airway:	n/a
18	chr12:51612794-51612844	GM12892	blood:	n/a
19	chr12:51612065-51612115	AoSMC	blood vessel:	n/a
20	chr12:51611600-51611650	AoSMC	blood vessel:	n/a
21	chr12:51611356-51611406	H1-hESC	embryonic stem cell:	embryo
22	chr12:51611871-51611921	ovcar-3	ovarian:	n/a
23	chr12:51612794-51612844	GM19239	blood:	n/a
24	chr12:51611871-51611921	H1-hESC	embryonic stem cell:	embryo
25	chr12:51611356-51611406	PFSK-1	brain:	n/a
26	chr12:51611356-51611406	BJ	skin:	n/a
27	chr12:51611356-51611406	Caco-2	colon:	n/a
28	chr12:51612065-51612115	AG04449	skin:	fetal
29	chr12:51612065-51612115	HCM	heart:	n/a
30	chr12:51611871-51611921	NT2-D1	testis:	n/a
31	chr12:51611356-51611406	SK-N-SH	brain:	n/a
32	chr12:51611826-51611876	NT2-D1	testis:	n/a
33	chr12:51611826-51611876	PFSK-1	brain:	n/a
34	chr12:51611871-51611921	ECC-1	luminal epithelium:	n/a
35	chr12:51611826-51611876	H1-hESC	embryonic stem cell:	embryo
36	chr12:51611826-51611876	AG09309	skin:	n/a
37	chr12:51611826-51611876	GM12878	blood:	n/a
38	chr12:51611826-51611876	HCT-116	colon:	n/a
39	chr12:51612794-51612844	BJ	skin:	n/a
40	chr12:51612794-51612844	NH-A	brain:	n/a
41	chr12:51611871-51611921	GM12878	blood:	n/a
42	chr12:51611871-51611921	IMR90	lung:	fetal
43	chr12:51611600-51611650	HUVEC	blood vessel:	n/a
44	chr12:51614784-51614834	PrEC	prostate:	n/a
45	chr12:51612794-51612844	AG04450	lung:	fetal
46	chr12:51612065-51612115	GM06990	blood:	n/a
47	chr12:51611826-51611876	Caco-2	colon:	n/a
48	chr12:51614784-51614834	NHDF-neo	bronchial:	n/a
49	chr12:51612065-51612115	A549	lung:	n/a
50	chr12:51614784-51614834	HepG2	liver:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51611611..51612296-chr5:137805483..137805987,2	HCT-116	colon:
2	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
3	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
4	chr12:51440554..51443122-chr12:51610984..51612842,2	K562	blood:
5	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
6	chr12:51157569..51159359-chr12:51611731..51613454,2	K562	blood:
7	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
8	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
9	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
10	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
11	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
12	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
13	chr12:51610705..51611579-chr12:51632548..51633161,2	NB4	blood:
14	chr1:17231308..17231913-chr12:51612141..51612873,2	Hela-S3	cervix:
15	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
16	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
17	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
18	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
19	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
20	chr11:62420332..62421199-chr12:51611516..51612196,2	Hela-S3	cervix:
21	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
22	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
23	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
24	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
25	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
26	chr12:51441675..51442301-chr12:51611617..51612286,2	MCF-7	breast:
27	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
28	chr12:51615094..51616659-chr12:51630849..51632957,2	K562	blood:
29	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
30	chr12:51612487..51613125-chr8:117886493..117887056,2	Hela-S3	cervix:
31	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
32	chr12:51611474..51612337-chr19:19626938..19627537,2	Hela-S3	cervix:
33	chr12:51611630..51613404-chr12:51614974..51616606,2	K562	blood:
34	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
35	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
36	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
37	chr12:51615081..51618060-chr12:51626400..51629742,3	MCF-7	breast:
38	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
ENSG00000269339	TF binding region
POU6F1	TF binding region
ENSG00000269339	CpG island
POU6F1	CpG island
ENSG00000258674	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000164754	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000184271	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000075856	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000186010	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000269339	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000264875	chromatin interactions
ENSG00000110925	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:220 , 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	rs60456495	chr12:51611451-51611452	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs559986529	chr12:51611457-51611458	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs532274239	chr12:51611580-51611581	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
4	rs546256316	chr12:51611583-51611584	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
5	rs551962182	chr12:51611661-51611662	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
6	rs571871681	chr12:51611675-51611676	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
7	rs60389775	chr12:51611679-51611680	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
8	rs531199798	chr12:51611698-51611699	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
9	rs180721442	chr12:51611716-51611717	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
10	rs536251368	chr12:51611758-51611759	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
11	rs550307127	chr12:51611761-51611762	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
12	rs553374217	chr12:51611764-51611765	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
13	rs115671344	chr12:51611779-51611780	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
14	rs539259135	chr12:51611796-51611797	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
15	rs539126564	chr12:51611798-51611799	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
16	rs139655367	chr12:51611956-51611957	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs7398442	chr12:51612021-51612022	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551666244	chr12:51612032-51612033	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
19	rs11386813	chr12:51612060-51612061	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
20	rs377118256	chr12:51612061-51612062	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
21	rs7398443	chr12:51612086-51612087	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149176544	chr12:51612128-51612129	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
23	rs78837606	chr12:51612131-51612132	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
24	rs560546220	chr12:51612156-51612157	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
25	rs186124752	chr12:51612229-51612230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
26	rs532062254	chr12:51612272-51612273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
27	rs368847617	chr12:51612289-51612290	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs143549413	chr12:51612303-51612304	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
29	rs565441536	chr12:51612329-51612330	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs61932927	chr12:51612365-51612366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
31	rs551245038	chr12:51612380-51612381	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
32	rs567855496	chr12:51612448-51612449	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
33	rs113211875	chr12:51612454-51612455	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
34	rs189358539	chr12:51612468-51612469	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
35	rs6580811	chr12:51612501-51612502	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6580812	chr12:51612548-51612549	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs565504627	chr12:51612557-51612558	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs141073080	chr12:51612613-51612614	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
39	rs531203838	chr12:51612646-51612647	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs537646277	chr12:51612669-51612670	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
41	rs554787696	chr12:51612677-51612678	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
42	rs549634410	chr12:51612693-51612694	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
43	rs574604392	chr12:51612695-51612696	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
44	rs7139213	chr12:51612730-51612731	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182357364	chr12:51612792-51612793	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
46	rs187351672	chr12:51612805-51612806	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs573143602	chr12:51612858-51612859	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
48	rs545846230	chr12:51612859-51612860	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs562570882	chr12:51612865-51612866	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs375374892	chr12:51612951-51612952	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51610200-51612200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:51610200-51612200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:51610200-51612200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:51610200-51612200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:51610200-51612400	Active TSS	Fetal Kidney	kidney
6	chr12:51610200-51612400	Active TSS	Right Ventricle	heart
7	chr12:51610200-51612800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:51610400-51612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51610400-51612200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51610400-51612200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:51610400-51612200	Active TSS	A549	lung
12	chr12:51610400-51612200	Active TSS	NHEK	skin
13	chr12:51610400-51612400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:51610400-51612600	Active TSS	Ovary	ovary
15	chr12:51610400-51612600	Active TSS	Psoas Muscle	Psoas
16	chr12:51610400-51613000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:51610600-51612000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:51610600-51612000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:51610600-51612000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:51610600-51612000	Weak transcription	Fetal Brain Male	brain
21	chr12:51610600-51612000	Active TSS	NHLF	lung
22	chr12:51610600-51612200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:51610600-51612200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:51610600-51612200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:51610600-51612200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:51610600-51612200	Active TSS	Colonic Mucosa	Colon
27	chr12:51610600-51612200	Active TSS	Fetal Intestine Small	intestine
28	chr12:51610600-51612200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:51610600-51612200	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:51610600-51612200	Active TSS	Hela-S3	cervix
31	chr12:51610600-51612200	Active TSS	HepG2	liver
32	chr12:51610600-51612400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:51610600-51612400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:51610600-51612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:51610600-51612400	Active TSS	Brain Angular Gyrus	brain
36	chr12:51610600-51612400	Active TSS	Brain Anterior Caudate	brain
37	chr12:51610600-51612400	Active TSS	Brain Hippocampus Middle	brain
38	chr12:51610600-51612400	Active TSS	Duodenum Mucosa	Duodenum
39	chr12:51610600-51612400	Active TSS	Left Ventricle	heart
40	chr12:51610600-51612400	Active TSS	Pancreas	Pancrea
41	chr12:51610600-51612400	Active TSS	Rectal Smooth Muscle	rectum
42	chr12:51610600-51612400	Active TSS	Small Intestine	intestine
43	chr12:51610600-51612400	Active TSS	NHDF-Ad	bronchial
44	chr12:51610600-51612600	Active TSS	Lung	lung
45	chr12:51610600-51612800	Active TSS	Aorta	Aorta
46	chr12:51610600-51612800	Active TSS	Colon Smooth Muscle	Colon
47	chr12:51610600-51613000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:51610800-51611400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:51610800-51612000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:51610800-51612000	Active TSS	Primary hematopoietic stem cells	blood

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