Variant report

Variant	nsv976611
Chromosome Location	chr12:49662416-49664269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49662526-49662726	K562	blood:	n/a	n/a
2	ATF1	chr12:49662361-49662676	K562	blood:	n/a	n/a
3	BACH1	chr12:49662359-49662673	H1-hESC	embryonic stem cell:	n/a	chr12:49662516-49662530
4	BACH1	chr12:49662474-49662546	K562	blood:	n/a	chr12:49662516-49662530
5	BCLAF1	chr12:49662287-49662967	K562	blood:	n/a	chr12:49662519-49662528 chr12:49662518-49662527
6	CEBPB	chr12:49662396-49662838	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr12:49662421-49662845	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:49662493-49662772	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:49662384-49662920	MCF-7	breast:	n/a	n/a
10	CEBPB	chr12:49662479-49662766	K562	blood:	n/a	n/a
11	CEBPB	chr12:49662448-49662806	K562	blood:	n/a	n/a
12	CEBPB	chr12:49662392-49662939	MCF-7	breast:	n/a	n/a
13	CEBPB	chr12:49662451-49662812	A549	lung:	n/a	n/a
14	CEBPB	chr12:49662458-49662804	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:49662378-49662814	K562	blood:	n/a	n/a
16	CEBPB	chr12:49662381-49662836	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:49662279-49662950	A549	lung:	n/a	n/a
18	CEBPB	chr12:49662373-49662785	A549	lung:	n/a	n/a
19	CHD1	chr12:49662080-49663241	IMR90	lung:	n/a	n/a
20	CTCF	chr12:49663265-49663366	Medullo	brain:	n/a	n/a
21	CTCF	chr12:49662700-49662850	AG04450	lung:	n/a	n/a
22	CUX1	chr12:49662631-49662677	K562	blood:	n/a	n/a
23	E2F4	chr12:49662395-49662741	MCF10A-Er-Src	breast:	n/a	n/a
24	ELK4	chr12:49663940-49664241	Hela-S3	cervix:	n/a	n/a
25	EP300	chr12:49662247-49662997	SK-N-SH	brain:	n/a	chr12:49662518-49662527
26	EP300	chr12:49663166-49663507	GM12878	blood:	n/a	n/a
27	EP300	chr12:49662421-49662851	Hela-S3	cervix:	n/a	chr12:49662518-49662527
28	EP300	chr12:49662366-49662792	K562	blood:	n/a	chr12:49662518-49662527
29	FOS	chr12:49662324-49663333	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
30	FOS	chr12:49662331-49663375	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
31	FOS	chr12:49662337-49662753	HUVEC	blood vessel:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
32	FOS	chr12:49662331-49663310	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
33	FOS	chr12:49662316-49663348	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
34	FOSL2	chr12:49662338-49662820	A549	lung:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
35	FOSL2	chr12:49662185-49662926	A549	lung:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
36	FOSL2	chr12:49662259-49662774	SK-N-SH	brain:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
37	FOSL2	chr12:49662251-49662964	SK-N-SH	brain:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
38	GATA2	chr12:49662248-49663220	HUVEC	blood vessel:	n/a	n/a
39	GATA2	chr12:49662723-49662934	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr12:49662702-49662858	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr12:49662720-49663001	MCF-7	breast:	n/a	n/a
42	GATA3	chr12:49662283-49663164	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr12:49662186-49663076	A549	lung:	n/a	n/a
44	GATA3	chr12:49662585-49662862	MCF-7	breast:	n/a	n/a
45	GATA3	chr12:49662612-49662955	T-47D	breast:	n/a	n/a
46	GATA3	chr12:49662488-49662978	MCF-7	breast:	n/a	n/a
47	GATA3	chr12:49662214-49663142	SK-N-SH	brain:	n/a	n/a
48	GTF2F1	chr12:49662600-49662656	K562	blood:	n/a	n/a
49	HEY1	chr12:49662207-49664643	K562	blood:	n/a	n/a
50	HEY1	chr12:49663082-49663787	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49662405-49662455	GM12892	blood:	n/a
2	chr12:49662405-49662455	GM06990	blood:	n/a
3	chr12:49662405-49662455	HL-60	blood:	n/a
4	chr12:49662405-49662455	NHDF-neo	bronchial:	n/a
5	chr12:49662405-49662455	GM19239	blood:	n/a
6	chr12:49662405-49662455	T-47D	breast:	n/a
7	chr12:49662405-49662455	AG09309	skin:	n/a
8	chr12:49662405-49662455	SAEC	small airway:	n/a
9	chr12:49662405-49662455	SKMC	muscle:	n/a
10	chr12:49662405-49662455	MCF-7	breast:	n/a
11	chr12:49662405-49662455	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:49662405-49662455	GM12891	blood:	n/a
13	chr12:49662405-49662455	AG09319	gingival:	n/a
14	chr12:49662405-49662455	HIPEpiC	eye:	n/a
15	chr12:49662405-49662455	AG04449	skin:	fetal
16	chr12:49662405-49662455	RPTEC	kidney:	n/a
17	chr12:49662405-49662455	HCM	heart:	n/a
18	chr12:49662405-49662455	PFSK-1	brain:	n/a
19	chr12:49662405-49662455	AG04450	lung:	fetal
20	chr12:49662405-49662455	SK-N-MC	brain:	n/a
21	chr12:49662405-49662455	LNCaP	prostate:	n/a
22	chr12:49662405-49662455	NH-A	brain:	n/a
23	chr12:49662405-49662455	HNPCEpiC	eye:	n/a
24	chr12:49662405-49662455	MCF10A-Er-Src	breast:	n/a
25	chr12:49662405-49662455	A549	lung:	n/a
26	chr12:49662405-49662455	HCT-116	colon:	n/a
27	chr12:49662405-49662455	HEEpiC	esophagus:	n/a
28	chr12:49662405-49662455	HepG2	liver:	n/a
29	chr12:49662405-49662455	HAEpiC	amniotic membrane:	n/a
30	chr12:49662405-49662455	AoSMC	blood vessel:	n/a
31	chr12:49662405-49662455	HUVEC	blood vessel:	n/a
32	chr12:49662405-49662455	BJ	skin:	n/a
33	chr12:49662405-49662455	SK-N-SH	brain:	n/a
34	chr12:49662405-49662455	HRE	kidney:	n/a
35	chr12:49662405-49662455	ProgFib	skin:	n/a
36	chr12:49662405-49662455	K562	blood:	n/a
37	chr12:49662405-49662455	NHBE	bronchial:	n/a
38	chr12:49662405-49662455	ovcar-3	ovarian:	n/a
39	chr12:49662405-49662455	BE2_C	brain:	n/a
40	chr12:49662405-49662455	IMR90	lung:	fetal
41	chr12:49662405-49662455	H1-hESC	embryonic stem cell:	embryo
42	chr12:49662405-49662455	HCF	heart:	n/a
43	chr12:49662405-49662455	PrEC	prostate:	n/a
44	chr12:49662405-49662455	HMEC	breast:	n/a
45	chr12:49662405-49662455	NB4	blood:	n/a
46	chr12:49662405-49662455	PANC-1	pancreas:	n/a
47	chr12:49662405-49662455	HEK293	kidney:	embryo
48	chr12:49662405-49662455	Hepatocyte	liver:	n/a
49	chr12:49662405-49662455	AG10803	skin:	n/a
50	chr12:49662405-49662455	HRPEpiC	eye:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
2	chr12:49523250..49526352-chr12:49663846..49665952,5	K562	blood:
3	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
4	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:
5	chr12:49663971..49666837-chr12:49712458..49715347,2	K562	blood:
6	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
7	chr12:49533073..49535795-chr12:49661700..49663392,2	K562	blood:
8	chr12:49661105..49664061-chr17:56709024..56710621,2	MCF-7	breast:
9	chr12:49462240..49465825-chr12:49663317..49667869,4	K562	blood:
10	chr12:49483859..49489908-chr12:49657302..49662649,9	K562	blood:
11	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
12	chr12:49660606..49662503-chr12:62995463..62997195,2	MCF-7	breast:
13	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:
14	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
15	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
16	chr12:49523250..49526538-chr12:49663846..49666716,3	K562	blood:
17	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
18	chr12:49453019..49455407-chr12:49664114..49666981,2	K562	blood:
19	chr12:49657571..49662873-chr12:49757027..49762131,10	K562	blood:
20	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
21	chr12:49628076..49629914-chr12:49660607..49662737,2	MCF-7	breast:
22	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
23	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258101	TF binding region
TUBA1C	TF binding region
ENSG00000258101	CpG island
TUBA1C	CpG island
ENSG00000123416	chromatin interactions
ENSG00000167550	chromatin interactions
ENSG00000135406	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000167548	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000178401	chromatin interactions
ENSG00000257354	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000139549	chromatin interactions
ENSG00000123352	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554071494	chr12:49662435-49662436	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs185527945	chr12:49662468-49662469	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs546418318	chr12:49662473-49662474	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs560648586	chr12:49662487-49662488	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs556477992	chr12:49662537-49662538	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs189654338	chr12:49662549-49662550	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs541971106	chr12:49662555-49662556	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs562132024	chr12:49662584-49662585	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs527711081	chr12:49662598-49662599	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs541420082	chr12:49662732-49662733	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs560475308	chr12:49662737-49662738	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs532299104	chr12:49662742-49662743	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs552399520	chr12:49662746-49662747	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs180671808	chr12:49662809-49662810	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs531500040	chr12:49662850-49662851	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs548000536	chr12:49662852-49662853	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs184911996	chr12:49662897-49662898	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs533578026	chr12:49662945-49662946	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs550879548	chr12:49662961-49662962	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs113223913	chr12:49662991-49662992	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs570857466	chr12:49662992-49662993	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs375929083	chr12:49663017-49663018	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs539747833	chr12:49663088-49663089	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs569402029	chr12:49663137-49663138	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs556778725	chr12:49663138-49663139	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs368836432	chr12:49663208-49663209	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs561214176	chr12:49663212-49663213	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs372672273	chr12:49663216-49663217	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs377104935	chr12:49663249-49663250	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs369325723	chr12:49663291-49663292	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs373470317	chr12:49663318-49663319	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs576580429	chr12:49663328-49663329	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs201675442	chr12:49663329-49663330	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs371053275	chr12:49663340-49663341	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs542382205	chr12:49663341-49663342	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs555926769	chr12:49663346-49663347	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs147456707	chr12:49663361-49663362	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs138486283	chr12:49663369-49663370	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs139215369	chr12:49663372-49663373	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs115048428	chr12:49663409-49663410	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs564472519	chr12:49663412-49663413	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs143029653	chr12:49663457-49663458	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs545794339	chr12:49663469-49663470	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs533386345	chr12:49663503-49663504	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs375489105	chr12:49663507-49663508	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs550007758	chr12:49663530-49663531	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs552058358	chr12:49663532-49663533	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs78897149	chr12:49663537-49663538	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs547965773	chr12:49663556-49663557	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs200135182	chr12:49663569-49663570	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	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
Cancer	17160897	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49659000-49663200	Transcr. at gene 5' and 3'	A549	lung
2	chr12:49659200-49673600	Weak transcription	Fetal Brain Male	brain
3	chr12:49659400-49664200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:49659600-49663200	Weak transcription	Fetal Brain Female	brain
5	chr12:49659600-49663400	Weak transcription	Ovary	ovary
6	chr12:49659600-49663800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:49659600-49664800	Weak transcription	Fetal Lung	lung
8	chr12:49659600-49668600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:49659600-49669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:49659600-49673600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:49659800-49662600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:49659800-49662600	Weak transcription	Fetal Kidney	kidney
13	chr12:49659800-49663000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:49659800-49663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:49659800-49663600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:49659800-49663600	Weak transcription	Aorta	Aorta
17	chr12:49659800-49663600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:49659800-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:49659800-49668600	Weak transcription	Right Atrium	heart
20	chr12:49660000-49662600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:49660000-49663000	Enhancers	Adipose Nuclei	Adipose
22	chr12:49660000-49663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:49660200-49663200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:49660200-49664000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:49660400-49662800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:49660400-49662800	Transcr. at gene 5' and 3'	K562	blood
27	chr12:49660400-49663000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:49660400-49663200	Transcr. at gene 5' and 3'	NHEK	skin
29	chr12:49660400-49663600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:49660600-49662800	Transcr. at gene 5' and 3'	NH-A	brain
31	chr12:49660600-49663000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
32	chr12:49660600-49663400	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr12:49660600-49663600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:49660800-49662600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:49660800-49662800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:49661000-49663000	Enhancers	Fetal Intestine Large	intestine
37	chr12:49661000-49663000	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:49661000-49663000	Enhancers	Placenta	Placenta
39	chr12:49661000-49663400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:49661000-49663400	Weak transcription	Spleen	Spleen
41	chr12:49661000-49663600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:49661000-49663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:49661000-49663600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:49661000-49663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:49661000-49668000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:49661000-49669800	Strong transcription	Fetal Stomach	stomach
47	chr12:49661200-49663000	Weak transcription	Thymus	Thymus
48	chr12:49661200-49664000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:49661400-49663200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:49661400-49663400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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