Variant report

Variant	rs11012944
Chromosome Location	chr10:22605170-22605171
allele	C/G
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	POLR2A	chr10:22604461-22606212	HUVEC	blood vessel:	n/a	n/a
2	RELA	chr10:22604932-22606097	GM19193	blood:	n/a	chr10:22605568-22605577 chr10:22605568-22605577
3	RCOR1	chr10:22604645-22606148	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:22603755-22606497	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr10:22605016-22606126	GM12878	blood:	n/a	chr10:22605581-22605590 chr10:22605118-22605134 chr10:22605117-22605133
6	SIN3A	chr10:22605046-22606040	GM12878	blood:	n/a	chr10:22605053-22605063
7	CTBP2	chr10:22604829-22605903	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr10:22604757-22606133	HepG2	liver:	n/a	chr10:22604964-22604974
9	MAX	chr10:22604829-22606128	K562	blood:	n/a	chr10:22604964-22604974
10	CHD2	chr10:22604858-22606139	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:22604790-22605977	K562	blood:	n/a	n/a
12	POLR2A	chr10:22604920-22606155	K562	blood:	n/a	n/a
13	HCFC1	chr10:22604895-22606265	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr10:22604883-22605870	Gliobla	brain:	n/a	n/a
15	HDAC2	chr10:22604945-22605487	K562	blood:	n/a	n/a
16	POLR2A	chr10:22604855-22606293	GM12892	blood:	n/a	n/a
17	MXI1	chr10:22604886-22606111	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:22604901-22606173	K562	blood:	n/a	n/a
19	POLR2A	chr10:22604862-22606260	GM19193	blood:	n/a	n/a
20	POLR2A	chr10:22604915-22605666	HCT-116	colon:	n/a	n/a
21	POLR2A	chr10:22604901-22605820	HUVEC	blood vessel:	n/a	n/a
22	SIN3AK20	chr10:22604978-22606160	K562	blood:	n/a	n/a
23	EGR1	chr10:22605031-22605289	GM12878	blood:	n/a	chr10:22605210-22605224
24	RAD21	chr10:22604552-22606024	IMR90	lung:	n/a	chr10:22605121-22605134
25	ELF1	chr10:22605075-22605772	GM12878	blood:	n/a	chr10:22605579-22605590
26	USF1	chr10:22605151-22605460	HepG2	liver:	n/a	n/a
27	TAF1	chr10:22604955-22605791	GM12878	blood:	n/a	n/a
28	MXI1	chr10:22605143-22605537	K562	blood:	n/a	n/a
29	POLR2A	chr10:22604978-22606222	GM18526	blood:	n/a	n/a
30	MYC	chr10:22605124-22605523	MCF-7	breast:	n/a	n/a
31	YY1	chr10:22604842-22605622	GM12892	blood:	n/a	chr10:22604960-22604974 chr10:22605117-22605131
32	REST	chr10:22604370-22606131	H1-neurons	neurons:	n/a	chr10:22605118-22605128 chr10:22605289-22605302 chr10:22604930-22604943
33	POLR2A	chr10:22604791-22606115	K562	blood:	n/a	n/a
34	RELA	chr10:22604977-22606324	GM10847	blood:	n/a	chr10:22605568-22605577 chr10:22605568-22605577
35	TAF1	chr10:22605149-22605590	GM12891	blood:	n/a	n/a
36	ZNF143	chr10:22604910-22605991	GM12878	blood:	n/a	chr10:22605550-22605560 chr10:22604967-22604977
37	POLR2A	chr10:22604302-22606231	MCF10A-Er-Src	breast:	n/a	n/a
38	CHD2	chr10:22604955-22605786	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr10:22604884-22605658	PANC-1	pancreas:	n/a	n/a
40	E2F4	chr10:22605039-22605781	MCF10A-Er-Src	breast:	n/a	n/a
41	PML	chr10:22604880-22605687	K562	blood:	n/a	n/a
42	STAT5A	chr10:22604612-22606134	GM12878	blood:	n/a	chr10:22605584-22605591
43	CEBPB	chr10:22605152-22606181	GM12878	blood:	n/a	n/a
44	YY1	chr10:22605161-22605669	SK-N-SH_RA	brain:	n/a	n/a
45	USF1	chr10:22605081-22605531	A549	lung:	n/a	chr10:22605115-22605131
46	USF1	chr10:22605119-22605526	GM12878	blood:	n/a	n/a
47	MAX	chr10:22604950-22606013	HepG2	liver:	n/a	chr10:22604964-22604974
48	BHLHE40	chr10:22603698-22606123	K562	blood:	n/a	chr10:22603996-22604005 chr10:22605115-22605131
49	HDAC2	chr10:22604854-22605203	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr10:22604570-22605800	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22603818..22606688-chr10:22628346..22630666,3	MCF-7	breast:
2	chr10:22291206..22294242-chr10:22603831..22605460,3	K562	blood:
3	chr10:22605069..22605799-chr2:233414568..233415244,2	Hela-S3	cervix:
4	chr10:22603971..22605635-chr10:22679537..22682108,3	K562	blood:
5	chr10:22604952..22605691-chr11:65190178..65190864,2	Hela-S3	cervix:
6	chr10:22289174..22294396-chr10:22603847..22611692,9	K562	blood:
7	chr10:22289238..22294973-chr10:22602474..22605963,8	MCF-7	breast:
8	chr10:22292097..22294081-chr10:22604495..22606517,2	MCF-7	breast:
9	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
10	chr10:22604765..22607634-chr10:22679633..22681364,2	K562	blood:
11	chr10:22605078..22605639-chr2:96874020..96874816,2	HCT-116	colon:

Variant related genes	Relation type
COMMD3	TF binding region
BMI1	TF binding region
COMMD3-BMI1	TF binding region
ENSG00000221944	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000261671	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000272366	Chromatin interaction
ENSG00000135930	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000077327	Chromatin interaction
ENSG00000136770	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10828303	0.89[AFR][1000 genomes]
rs11012938	0.89[AFR][1000 genomes]
rs11012939	0.89[AFR][1000 genomes]
rs11012941	0.89[AFR][1000 genomes]
rs11012942	0.89[AFR][1000 genomes]
rs12240495	0.89[AFR][1000 genomes]
rs12240577	0.89[AFR][1000 genomes]
rs12255961	0.89[AFR][1000 genomes]
rs12263397	0.87[AFR][1000 genomes]
rs12263441	0.89[AFR][1000 genomes]
rs16922163	0.89[AFR][1000 genomes]
rs7069551	0.89[AFR][1000 genomes]
rs7071244	0.88[AFR][1000 genomes]
rs7072756	0.88[AFR][1000 genomes]
rs7073046	0.87[AFR][1000 genomes]
rs7080076	0.86[AFR][1000 genomes]
rs7082672	0.89[AFR][1000 genomes]
rs7085030	0.81[AFR][1000 genomes]
rs7085161	0.84[AFR][1000 genomes]
rs7086440	0.92[AFR][1000 genomes]
rs7913881	0.87[AFR][1000 genomes]
rs7916150	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825292	chr10:22560347-22642200	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv825293	chr10:22575226-22637618	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv825294	chr10:22590627-22644910	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv825295	chr10:22591275-22643207	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv825296	chr10:22591339-22638994	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv894950	chr10:22591830-22639903	Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv894951	chr10:22594765-22616244	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv894952	chr10:22594765-22618544	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv894953	chr10:22594765-22619304	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv894954	chr10:22594765-22621960	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	esv1817463	chr10:22594765-22626662	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv894955	chr10:22594765-22631256	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv894956	chr10:22594765-22633193	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv894957	chr10:22594765-22637381	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv1816646	chr10:22594765-22639707	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv894958	chr10:22594765-22639903	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	esv1791996	chr10:22595781-22616437	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv825297	chr10:22596793-22637576	Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv825299	chr10:22596793-22638994	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	esv1820141	chr10:22597467-22625441	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
21	nsv550204	chr10:22601976-22616270	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
22	nsv550205	chr10:22601976-22616784	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
23	nsv894959	chr10:22602013-22619304	ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
24	nsv550206	chr10:22603318-22616270	Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
25	nsv550207	chr10:22605112-22631256	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22604000-22605800	Active TSS	Brain Anterior Caudate	brain
2	chr10:22604000-22606200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:22604000-22607200	Active TSS	GM12878-XiMat	blood
4	chr10:22604200-22605400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr10:22604200-22606400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr10:22604200-22606800	Active TSS	Fetal Brain Female	brain
7	chr10:22604200-22606800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr10:22604400-22605800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr10:22604400-22605800	Active TSS	Primary T cells from cord blood	blood
10	chr10:22604400-22605800	Active TSS	Brain Cingulate Gyrus	brain
11	chr10:22604400-22605800	Active TSS	Brain Hippocampus Middle	brain
12	chr10:22604400-22605800	Active TSS	Fetal Muscle Leg	muscle
13	chr10:22604400-22605800	Active TSS	Right Atrium	heart
14	chr10:22604400-22605800	Active TSS	Stomach Smooth Muscle	stomach
15	chr10:22604400-22606000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:22604400-22606000	Active TSS	Brain Substantia Nigra	brain
17	chr10:22604400-22606000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr10:22604400-22606200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:22604400-22606200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:22604400-22606200	Active TSS	Fetal Muscle Trunk	muscle
21	chr10:22604400-22606200	Active TSS	Fetal Stomach	stomach
22	chr10:22604400-22606200	Active TSS	Psoas Muscle	Psoas
23	chr10:22604400-22606400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr10:22604400-22606400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:22604400-22606400	Active TSS	Right Ventricle	heart
26	chr10:22604400-22606400	Active TSS	HSMMtube	muscle
27	chr10:22604400-22606600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:22604400-22606600	Active TSS	Fetal Intestine Large	intestine
29	chr10:22604400-22606600	Active TSS	Fetal Kidney	kidney
30	chr10:22604400-22607000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:22604400-22608200	Active TSS	K562	blood
32	chr10:22604600-22605800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:22604600-22605800	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:22604600-22605800	Active TSS	Fetal Brain Male	brain
35	chr10:22604600-22605800	Active TSS	Fetal Lung	lung
36	chr10:22604600-22605800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr10:22604600-22605800	Active TSS	Osteobl	bone
38	chr10:22604600-22606000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr10:22604600-22606000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:22604600-22606000	Active TSS	Fetal Heart	heart
41	chr10:22604600-22606000	Active TSS	Placenta	Placenta
42	chr10:22604600-22606000	Active TSS	Pancreas	Pancrea
43	chr10:22604600-22606000	Active TSS	Stomach Mucosa	stomach
44	chr10:22604600-22606200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr10:22604600-22606200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:22604600-22606200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr10:22604600-22606200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:22604600-22606200	Active TSS	Aorta	Aorta
49	chr10:22604600-22606200	Active TSS	Colonic Mucosa	Colon
50	chr10:22604600-22606200	Active TSS	Esophagus	oesophagus

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