Variant report

Variant	rs11012946
Chromosome Location	chr10:22614430-22614431
allele	C/T
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	HMGN3	chr10:22614259-22614928	K562	blood:	n/a	n/a
2	MAX	chr10:22614240-22614512	K562	blood:	n/a	n/a
3	MYC	chr10:22613769-22614932	K562	blood:	n/a	chr10:22614662-22614671
4	POLR2A	chr10:22614247-22614477	ProgFib	skin:	n/a	n/a
5	TCF12	chr10:22614142-22615077	ECC-1	luminal epithelium:	n/a	chr10:22615047-22615057
6	POLR2A	chr10:22614216-22614518	K562	blood:	n/a	n/a
7	SIN3AK20	chr10:22614121-22614562	K562	blood:	n/a	n/a
8	MAZ	chr10:22614109-22615193	K562	blood:	n/a	chr10:22614662-22614671
9	RUNX3	chr10:22614056-22614469	GM12878	blood:	n/a	n/a
10	MAX	chr10:22614297-22614478	HepG2	liver:	n/a	n/a
11	RUNX3	chr10:22614167-22614504	GM12878	blood:	n/a	n/a
12	MAX	chr10:22614180-22614933	K562	blood:	n/a	chr10:22614662-22614671
13	MAX	chr10:22614157-22615235	A549	lung:	n/a	chr10:22614662-22614671
14	MXI1	chr10:22613453-22615640	SK-N-SH	brain:	n/a	chr10:22614662-22614677
15	UBTF	chr10:22614198-22615070	K562	blood:	n/a	n/a
16	CTBP2	chr10:22614150-22615035	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr10:22613729-22614951	K562	blood:	n/a	chr10:22614662-22614671
18	CCNT2	chr10:22614266-22614914	K562	blood:	n/a	n/a
19	POLR2A	chr10:22614142-22614528	K562	blood:	n/a	n/a
20	POLR2A	chr10:22614324-22614973	MCF-7	breast:	n/a	n/a
21	MXI1	chr10:22614163-22614841	K562	blood:	n/a	chr10:22614662-22614677
22	MAX	chr10:22614227-22615097	HCT-116	colon:	n/a	chr10:22614662-22614671
23	CREB1	chr10:22614256-22614470	A549	lung:	n/a	n/a
24	ZBTB7A	chr10:22614262-22614554	K562	blood:	n/a	n/a
25	MXI1	chr10:22614201-22615040	HepG2	liver:	n/a	chr10:22614662-22614677
26	SIN3A	chr10:22614169-22615280	H1-hESC	embryonic stem cell:	n/a	chr10:22614380-22614389 chr10:22614816-22614825 chr10:22614383-22614396
27	MAZ	chr10:22614303-22614946	HepG2	liver:	n/a	chr10:22614662-22614671
28	NFIC	chr10:22614380-22615077	ECC-1	luminal epithelium:	n/a	chr10:22614893-22614921
29	POLR2A	chr10:22614317-22615212	MCF-7	breast:	n/a	n/a
30	YY1	chr10:22614165-22614476	GM12878	blood:	n/a	chr10:22614406-22614415
31	MAX	chr10:22614203-22615117	A549	lung:	n/a	chr10:22614662-22614671
32	YY1	chr10:22614240-22614457	H1-hESC	embryonic stem cell:	n/a	chr10:22614406-22614415
33	BACH1	chr10:22614188-22614449	H1-hESC	embryonic stem cell:	n/a	n/a
34	UBTF	chr10:22614273-22615020	K562	blood:	n/a	n/a
35	MYC	chr10:22614335-22615283	K562	blood:	n/a	chr10:22614662-22614671
36	EGR1	chr10:22614234-22614879	K562	blood:	n/a	n/a
37	MTA3	chr10:22613897-22614505	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:22614232-22614932	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22290732..22293917-chr10:22611433..22614799,4	MCF-7	breast:
2	chr10:22611886..22615757-chr10:22677839..22683321,7	K562	blood:
3	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
4	chr10:22614179..22617012-chr10:22679231..22681759,3	K562	blood:

Variant related genes	Relation type
BMI1	TF binding region
ENSG00000272366	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000077327	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11012943	1.00[AMR][1000 genomes]
rs12241581	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12257327	0.84[YRI][hapmap]
rs12265907	1.00[AMR][1000 genomes]
rs2026631	0.88[YRI][hapmap]
rs7069116	1.00[AMR][1000 genomes]
rs7075793	0.89[YRI][hapmap]
rs7091742	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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
26	nsv550208	chr10:22607432-22615763	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv550209	chr10:22607829-22615491	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
28	esv16014	chr10:22609123-22617566	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr10:22612800-22615600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:22613600-22614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:22613600-22615200	Active TSS	Right Ventricle	heart
4	chr10:22613600-22615400	Active TSS	Right Atrium	heart
5	chr10:22613800-22614800	Active TSS	Fetal Muscle Trunk	muscle
6	chr10:22613800-22615000	Active TSS	Lung	lung
7	chr10:22613800-22615600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:22614000-22614800	Active TSS	Placenta	Placenta
9	chr10:22614000-22615000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:22614000-22615000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:22614000-22615000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:22614000-22615000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr10:22614000-22615000	Active TSS	Brain Angular Gyrus	brain
14	chr10:22614000-22615000	Active TSS	Brain Substantia Nigra	brain
15	chr10:22614000-22615000	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr10:22614000-22615000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr10:22614000-22615000	Active TSS	Stomach Smooth Muscle	stomach
18	chr10:22614000-22615000	Active TSS	HMEC	breast
19	chr10:22614000-22615200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr10:22614000-22615200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr10:22614000-22615200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:22614000-22615200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:22614000-22615200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:22614000-22615200	Active TSS	Brain Germinal Matrix	brain
25	chr10:22614000-22615200	Active TSS	Esophagus	oesophagus
26	chr10:22614000-22615200	Active TSS	Ovary	ovary
27	chr10:22614000-22615200	Active TSS	Pancreas	Pancrea
28	chr10:22614000-22615200	Active TSS	Psoas Muscle	Psoas
29	chr10:22614000-22615400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:22614000-22615400	Active TSS	Aorta	Aorta
31	chr10:22614000-22615600	Active TSS	GM12878-XiMat	blood
32	chr10:22614200-22614800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr10:22614200-22614800	Active TSS	Primary B cells from peripheral blood	blood
34	chr10:22614200-22614800	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr10:22614200-22614800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr10:22614200-22614800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr10:22614200-22614800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:22614200-22614800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:22614200-22614800	Active TSS	Stomach Mucosa	stomach
40	chr10:22614200-22614800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
41	chr10:22614200-22614800	Active TSS	NHEK	skin
42	chr10:22614200-22615000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:22614200-22615000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:22614200-22615000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:22614200-22615000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr10:22614200-22615000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:22614200-22615000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:22614200-22615000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr10:22614200-22615000	Active TSS	Brain Anterior Caudate	brain
50	chr10:22614200-22615000	Active TSS	Brain Hippocampus Middle	brain

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