Variant report

Variant	nsv973963
Chromosome Location	chr12:58138245-58145482
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	chr12:58145311-58146887	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:58138132-58139380	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:58145433-58145827	K562	blood:	n/a	n/a
4	ATF1	chr12:58137486-58139049	K562	blood:	n/a	chr12:58138716-58138730
5	ATF2	chr12:58138004-58139627	H1-hESC	embryonic stem cell:	n/a	chr12:58138716-58138730
6	ATF2	chr12:58138053-58139442	H1-hESC	embryonic stem cell:	n/a	chr12:58138716-58138730
7	ATF2	chr12:58137973-58139385	GM12878	blood:	n/a	chr12:58138716-58138730
8	ATF2	chr12:58137901-58140063	GM12878	blood:	n/a	chr12:58138716-58138730
9	ATF3	chr12:58145452-58145923	K562	blood:	n/a	chr12:58145913-58145922
10	ATF3	chr12:58139183-58139824	A549	lung:	n/a	n/a
11	ATF3	chr12:58138116-58138899	K562	blood:	n/a	chr12:58138719-58138727 chr12:58138708-58138728 chr12:58138399-58138409 chr12:58138717-58138730 chr12:58138716-58138731 chr12:58138718-58138729 chr12:58138718-58138729 chr12:58138717-58138727 chr12:58138716-58138727 chr12:58138395-58138410
12	ATF3	chr12:58138628-58139311	A549	lung:	n/a	chr12:58138719-58138727 chr12:58138708-58138728 chr12:58138717-58138730 chr12:58138716-58138731 chr12:58138718-58138729 chr12:58138718-58138729 chr12:58138717-58138727 chr12:58138716-58138727
13	BACH1	chr12:58138755-58139288	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr12:58145328-58145774	GM12878	blood:	n/a	n/a
15	BATF	chr12:58138195-58138516	GM12878	blood:	n/a	n/a
16	BCL11A	chr12:58138193-58138594	GM12878	blood:	n/a	n/a
17	BCL3	chr12:58138269-58140438	A549	lung:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
18	BCL3	chr12:58139241-58139673	GM12878	blood:	n/a	n/a
19	BCL3	chr12:58138251-58139761	GM12878	blood:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
20	BCL3	chr12:58137853-58140628	A549	lung:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
21	BCLAF1	chr12:58145114-58146248	GM12878	blood:	n/a	n/a
22	BCLAF1	chr12:58138012-58138635	GM12878	blood:	n/a	n/a
23	BCLAF1	chr12:58138655-58139835	GM12878	blood:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
24	BCLAF1	chr12:58145050-58146692	GM12878	blood:	n/a	chr12:58146378-58146391 chr12:58146344-58146357 chr12:58146262-58146271
25	BCLAF1	chr12:58138673-58140181	GM12878	blood:	n/a	chr12:58139114-58139123 chr12:58139064-58139073
26	BHLHE40	chr12:58145433-58146623	A549	lung:	n/a	chr12:58146356-58146365 chr12:58146188-58146197 chr12:58146187-58146196 chr12:58146355-58146364 chr12:58146185-58146198 chr12:58146187-58146196 chr12:58146186-58146195 chr12:58146380-58146396 chr12:58146353-58146366 chr12:58146355-58146364 chr12:58146354-58146363 chr12:58146181-58146202
27	BHLHE40	chr12:58138180-58139244	GM12878	blood:	n/a	n/a
28	BHLHE40	chr12:58145193-58146643	K562	blood:	n/a	chr12:58146356-58146365 chr12:58146188-58146197 chr12:58146187-58146196 chr12:58146355-58146364 chr12:58146185-58146198 chr12:58146187-58146196 chr12:58146186-58146195 chr12:58146380-58146396 chr12:58146353-58146366 chr12:58146355-58146364 chr12:58146354-58146363 chr12:58146181-58146202
29	BHLHE40	chr12:58138228-58139590	K562	blood:	n/a	n/a
30	BRCA1	chr12:58138273-58138944	GM12878	blood:	n/a	n/a
31	BRCA1	chr12:58138280-58139234	HepG2	liver:	n/a	n/a
32	BRCA1	chr12:58138136-58139445	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr12:58138036-58139011	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr12:58145403-58146925	K562	blood:	n/a	n/a
35	CBX3	chr12:58137959-58139310	K562	blood:	n/a	n/a
36	CBX3	chr12:58138127-58138985	K562	blood:	n/a	n/a
37	CCNT2	chr12:58145366-58146540	K562	blood:	n/a	n/a
38	CCNT2	chr12:58138398-58139400	K562	blood:	n/a	chr12:58138435-58138444
39	CEBPB	chr12:58145478-58146618	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr12:58138272-58138516	K562	blood:	n/a	chr12:58138378-58138389
41	CEBPB	chr12:58138175-58138914	IMR90	lung:	n/a	chr12:58138378-58138389
42	CEBPB	chr12:58138024-58138924	A549	lung:	n/a	chr12:58138378-58138389
43	CEBPB	chr12:58138145-58138868	ECC-1	luminal epithelium:	n/a	chr12:58138378-58138389
44	CEBPB	chr12:58138484-58139471	GM12878	blood:	n/a	n/a
45	CEBPB	chr12:58138036-58138908	H1-hESC	embryonic stem cell:	n/a	chr12:58138378-58138389
46	CEBPB	chr12:58138598-58138815	K562	blood:	n/a	n/a
47	CEBPB	chr12:58138116-58138924	K562	blood:	n/a	chr12:58138378-58138389
48	CEBPB	chr12:58137793-58139033	HepG2	liver:	n/a	chr12:58138378-58138389
49	CEBPB	chr12:58138109-58139041	MCF-7	breast:	n/a	chr12:58138378-58138389
50	CEBPB	chr12:58145464-58145899	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58138320-58138370	ProgFib	skin:	n/a
2	chr12:58138320-58138370	ProgFib	skin:	n/a
3	chr12:58145283-58145333	U87	brain:	n/a
4	chr12:58138805-58138855	ProgFib	skin:	n/a
5	chr12:58141969-58142019	K562	blood:	n/a
6	chr12:58138329-58138379	HEEpiC	esophagus:	n/a
7	chr12:58138780-58138830	ovcar-3	ovarian:	n/a
8	chr12:58139148-58139198	GM19239	blood:	n/a
9	chr12:58138329-58138379	GM12878	blood:	n/a
10	chr12:58138949-58138999	GM12878	blood:	n/a
11	chr12:58141969-58142019	HL-60	blood:	n/a
12	chr12:58145316-58145366	HRE	kidney:	n/a
13	chr12:58138730-58138780	HRE	kidney:	n/a
14	chr12:58145283-58145333	HRE	kidney:	n/a
15	chr12:58138780-58138830	NH-A	brain:	n/a
16	chr12:58138949-58138999	SK-N-SH	brain:	n/a
17	chr12:58138949-58138999	HRCEpiC	kidney:	n/a
18	chr12:58138329-58138379	SK-N-SH_RA	brain:	n/a
19	chr12:58138780-58138830	HEK293	kidney:	embryo
20	chr12:58138949-58138999	A549	lung:	n/a
21	chr12:58138730-58138780	AoSMC	blood vessel:	n/a
22	chr12:58145283-58145333	SK-N-MC	brain:	n/a
23	chr12:58138780-58138830	IMR90	lung:	fetal
24	chr12:58138773-58138823	MCF10A-Er-Src	breast:	n/a
25	chr12:58138773-58138823	HCM	heart:	n/a
26	chr12:58138723-58138773	PFSK-1	brain:	n/a
27	chr12:58138780-58138830	LNCaP	prostate:	n/a
28	chr12:58141969-58142019	PrEC	prostate:	n/a
29	chr12:58145316-58145366	AG09309	skin:	n/a
30	chr12:58138805-58138855	AG04450	lung:	fetal
31	chr12:58138320-58138370	HepG2	liver:	n/a
32	chr12:58145316-58145366	SAEC	small airway:	n/a
33	chr12:58138730-58138780	AG09319	gingival:	n/a
34	chr12:58139148-58139198	SAEC	small airway:	n/a
35	chr12:58138329-58138379	NHBE	bronchial:	n/a
36	chr12:58138730-58138780	BE2_C	brain:	n/a
37	chr12:58138730-58138780	HMEC	breast:	n/a
38	chr12:58138676-58138726	HCT-116	colon:	n/a
39	chr12:58138402-58138452	Caco-2	colon:	n/a
40	chr12:58138723-58138773	HRPEpiC	eye:	n/a
41	chr12:58138723-58138773	Hela-S3	cervix:	n/a
42	chr12:58138329-58138379	GM12891	blood:	n/a
43	chr12:58138402-58138452	HEK293	kidney:	embryo
44	chr12:58138730-58138780	HAEpiC	amniotic membrane:	n/a
45	chr12:58145316-58145366	CMK	blood:	n/a
46	chr12:58141969-58142019	SKMC	muscle:	n/a
47	chr12:58138773-58138823	BJ	skin:	n/a
48	chr12:58138329-58138379	HepG2	liver:	n/a
49	chr12:58138730-58138780	U87	brain:	n/a
50	chr12:58138320-58138370	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57912095..57914310-chr12:58137199..58139977,2	MCF-7	breast:
2	chr12:57921185..57924132-chr12:58144470..58146639,2	MCF-7	breast:
3	chr12:57940172..57943060-chr12:58144511..58146770,2	K562	blood:
4	chr12:57999383..58001566-chr12:58144554..58147066,2	K562	blood:
5	chr12:57914797..57916581-chr12:58144797..58147078,2	MCF-7	breast:
6	chr12:58110256..58111795-chr12:58136834..58138576,2	K562	blood:
7	chr12:57984385..57986376-chr12:58138351..58140314,2	K562	blood:
8	chr12:57939918..57942387-chr12:58138816..58141058,2	K562	blood:
9	chr12:57929794..57931809-chr12:58137772..58140062,2	MCF-7	breast:
10	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
11	chr12:57983000..57984965-chr12:58144459..58146652,2	MCF-7	breast:
12	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
13	chr12:57912759..57917021-chr12:58137187..58141030,5	MCF-7	breast:
14	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:
15	chr12:57975136..57977432-chr12:58144177..58146349,2	K562	blood:
16	chr12:58136663..58139289-chr12:58209484..58211140,2	MCF-7	breast:
17	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
18	chr12:57914544..57916510-chr12:58137621..58139842,2	MCF-7	breast:
19	chr12:57853636..57856322-chr12:58144624..58147677,3	K562	blood:
20	chr12:57983992..57986489-chr12:58138776..58141177,2	MCF-7	breast:
21	chr12:57999349..58001291-chr12:58136626..58138684,2	MCF-7	breast:
22	chr12:57940849..57942387-chr12:58138816..58140678,2	K562	blood:
23	chr12:57851728..57854572-chr12:58144859..58146430,2	MCF-7	breast:
24	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
25	chr12:57480720..57482842-chr12:58137848..58140572,2	MCF-7	breast:
26	chr12:58087963..58090015-chr12:58135422..58139186,3	K562	blood:
27	chr12:57943211..57945354-chr12:58136144..58138825,2	K562	blood:
28	chr12:57916512..57918954-chr12:58138893..58140769,2	MCF-7	breast:
29	chr12:58137583..58140333-chr12:58207188..58209651,2	K562	blood:
30	chr12:57080844..57082659-chr12:58144695..58147272,2	K562	blood:
31	chr12:58138996..58139662-chr6:30293787..30294571,2	HCT-116	colon:
32	chr12:57985035..57986943-chr12:58137813..58139906,2	K562	blood:
33	chr12:57853636..57856322-chr12:58144624..58146178,2	K562	blood:
34	chr12:57983953..57986282-chr12:58144732..58146492,2	K562	blood:
35	chr12:57914556..57917935-chr12:58138142..58139921,3	K562	blood:
36	chr12:57913857..57916876-chr12:58140485..58143986,3	K562	blood:
37	chr12:57984152..57987020-chr12:58140482..58142232,2	K562	blood:
38	chr12:57480031..57482599-chr12:58144777..58147375,2	MCF-7	breast:
39	chr12:58086381..58087931-chr12:58138408..58140168,2	K562	blood:
40	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
41	chr12:57911462..57914270-chr12:58144691..58146581,3	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6759-5p	chr12:58142439-58142460	MIMAT0027418
hsa-miR-6759-3p	chr12:58142401-58142422	MIMAT0027419

No.	miRNA target gene	miRNA name	Chromosome Location
1	CDK4	hsa-miR-124-3p	chr12:58142171-58142190
2	CDK4	hsa-miR-124-3p	chr12:58142176-58142170
3	CDK4	hsa-miR-1	chr12:58142160-58142181

Variant related genes	Relation type
TSPAN31	TF binding region
MARCH9	TF binding region
AGAP2	TF binding region
CDK4	TF binding region
TSPAN31	CpG island
MARCH9	CpG island
AGAP2	CpG island
CDK4	CpG island
ENSG00000135407	chromatin interactions
ENSG00000175203	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000270604	chromatin interactions
ENSG00000231074	chromatin interactions
ENSG00000204599	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000155980	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000166886	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000175215	chromatin interactions
ENSG00000269903	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000135506	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189069440	chr12:58138256-58138257	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs565157111	chr12:58138308-58138309	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs577120925	chr12:58138318-58138319	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs541368689	chr12:58138367-58138368	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs549412780	chr12:58138401-58138402	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs142008260	chr12:58138441-58138442	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs2856291	chr12:58138516-58138517	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs192322962	chr12:58138535-58138536	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs544921881	chr12:58138563-58138564	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs566407972	chr12:58138625-58138626	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs2640599	chr12:58138632-58138633	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs548775952	chr12:58138729-58138730	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs563403180	chr12:58138744-58138745	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs140758977	chr12:58138746-58138747	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs28364702	chr12:58138824-58138825	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs112721885	chr12:58138850-58138851	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs138516701	chr12:58138857-58138858	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs117347172	chr12:58138868-58138869	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs185407806	chr12:58138879-58138880	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs568013081	chr12:58138890-58138891	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs201805625	chr12:58138891-58138892	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs527602239	chr12:58138898-58138899	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs575067170	chr12:58138911-58138912	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs537151372	chr12:58138929-58138930	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs143447057	chr12:58138963-58138964	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs147996581	chr12:58138971-58138972	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs143513490	chr12:58138974-58138975	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs372901495	chr12:58139009-58139010	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs558967925	chr12:58139026-58139027	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs577208050	chr12:58139033-58139034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs200854365	chr12:58139043-58139044	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs559822260	chr12:58139123-58139124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs143207168	chr12:58139157-58139158	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs79961948	chr12:58139160-58139161	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs575168133	chr12:58139242-58139243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs35187428	chr12:58139253-58139254	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs397695856	chr12:58139254-58139255	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs2859455	chr12:58139285-58139286	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs11611574	chr12:58139291-58139292	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs114086670	chr12:58139303-58139304	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs563896639	chr12:58139317-58139318	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs531083214	chr12:58139345-58139346	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs143745274	chr12:58139415-58139416	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs375114708	chr12:58139420-58139421	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs367543632	chr12:58139438-58139439	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs551997411	chr12:58139460-58139461	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs375907964	chr12:58139482-58139483	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs564201172	chr12:58139501-58139502	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs528122845	chr12:58139507-58139508	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs372537329	chr12:58139513-58139514	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bone cancer	16732325	CNVD
Glioblastoma multiforme	21642372	CNVD
Neuroblastoma	22034077	CNVD

Chromatin state (count:991 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58132200-58138800	Weak transcription	Gastric	stomach
2	chr12:58137600-58138400	Flanking Active TSS	GM12878-XiMat	blood
3	chr12:58137800-58138400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:58137800-58138400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr12:58137800-58138400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:58137800-58138400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:58137800-58138400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:58137800-58139400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:58137800-58139400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr12:58137800-58139400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:58137800-58140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:58138000-58138400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:58138000-58138400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:58138000-58138400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:58138000-58138400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:58138000-58138400	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr12:58138000-58138400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:58138000-58138400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:58138000-58138400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:58138000-58138400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:58138000-58138400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:58138000-58138400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr12:58138000-58138400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr12:58138000-58138400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:58138000-58138400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:58138000-58138400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:58138000-58138400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:58138000-58138400	Flanking Active TSS	Liver	Liver
29	chr12:58138000-58138400	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr12:58138000-58138400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr12:58138000-58138400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:58138000-58138400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr12:58138000-58138400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:58138000-58138400	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr12:58138000-58138400	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr12:58138000-58138400	Flanking Active TSS	Fetal Kidney	kidney
37	chr12:58138000-58138400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
38	chr12:58138000-58138400	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr12:58138000-58138400	Flanking Active TSS	Fetal Stomach	stomach
40	chr12:58138000-58138400	Flanking Active TSS	Right Atrium	heart
41	chr12:58138000-58138400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:58138000-58138400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr12:58138000-58138400	Enhancers	Stomach Mucosa	stomach
44	chr12:58138000-58138400	Flanking Active TSS	Dnd41	blood
45	chr12:58138000-58138400	Flanking Active TSS	Hela-S3	cervix
46	chr12:58138000-58138400	Enhancers	HUVEC	blood vessel
47	chr12:58138000-58138400	Flanking Active TSS	K562	blood
48	chr12:58138000-58138400	Flanking Active TSS	Osteobl	bone
49	chr12:58138000-58138600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:58138000-58138600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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