Variant report

Variant	rs531706447
Chromosome Location	chr10:22611278-22611279
allele	A/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	ZNF263	chr10:22610988-22612048	HEK293-T-REx	kidney:	n/a	n/a
2	CTCF	chr10:22611200-22611350	BJ	skin:	n/a	n/a
3	POLR2A	chr10:22611000-22611381	ProgFib	skin:	n/a	n/a
4	POLR2A	chr10:22610847-22611539	H1-neurons	neurons:	n/a	n/a
5	MAZ	chr10:22608776-22611595	IMR90	lung:	n/a	chr10:22609951-22609970 chr10:22609956-22609965 chr10:22609955-22609966 chr10:22611023-22611032 chr10:22609954-22609967
6	UBTF	chr10:22610935-22611672	K562	blood:	n/a	n/a
7	POLR2A	chr10:22609393-22611287	MCF-7	breast:	n/a	n/a
8	EGR1	chr10:22611130-22611399	K562	blood:	n/a	chr10:22611237-22611250
9	YY1	chr10:22610849-22611581	GM12878	blood:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
10	POLR2A	chr10:22611012-22611401	Hela-S3	cervix:	n/a	n/a
11	MAX	chr10:22610940-22611458	Hela-S3	cervix:	n/a	chr10:22611021-22611031 chr10:22611023-22611032
12	POLR2A	chr10:22610860-22611336	K562	blood:	n/a	n/a
13	YY1	chr10:22611121-22611546	GM12891	blood:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
14	SUZ12	chr10:22610349-22612585	NT2-D1	testis:	n/a	n/a
15	YY1	chr10:22611015-22611503	SK-N-SH_RA	brain:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
16	POLR2A	chr10:22609570-22612115	H1-neurons	neurons:	n/a	n/a
17	YY1	chr10:22610864-22611595	GM12892	blood:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
18	YY1	chr10:22611186-22611518	GM12892	blood:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
19	YY1	chr10:22611120-22611569	K562	blood:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
20	POLR2A	chr10:22611208-22611568	MCF-7	breast:	n/a	n/a
21	ELF1	chr10:22610887-22611331	GM12878	blood:	n/a	n/a
22	MXI1	chr10:22608464-22612478	SK-N-SH	brain:	n/a	n/a
23	YY1	chr10:22611101-22611648	SK-N-SH	brain:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
24	HA-E2F1	chr10:22610913-22611560	MCF-7	breast:	n/a	chr10:22610989-22610998
25	YY1	chr10:22610852-22611627	GM12878	blood:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
26	E2F4	chr10:22611271-22611631	MCF10A-Er-Src	breast:	n/a	n/a
27	SUZ12	chr10:22610907-22612022	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr10:22611132-22611520	SK-N-SH_RA	brain:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
29	YY1	chr10:22611242-22611499	HepG2	liver:	n/a	chr10:22611347-22611357 chr10:22611348-22611356
30	YY1	chr10:22610914-22611692	SK-N-SH	brain:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
31	YY1	chr10:22610933-22611611	H1-hESC	embryonic stem cell:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
32	YY1	chr10:22611207-22611536	A549	lung:	n/a	chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
33	MAZ	chr10:22610963-22611294	Hela-S3	cervix:	n/a	chr10:22611023-22611032
34	TCF12	chr10:22610918-22611734	A549	lung:	n/a	n/a
35	MXI1	chr10:22608852-22611864	IMR90	lung:	n/a	n/a
36	POLR2A	chr10:22611165-22611529	MCF10A-Er-Src	breast:	n/a	n/a
37	YY1	chr10:22610953-22611550	H1-hESC	embryonic stem cell:	n/a	chr10:22610987-22610998 chr10:22611347-22611357 chr10:22611212-22611224 chr10:22611348-22611356
38	CHD2	chr10:22611112-22611420	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:22611263-22611356	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22288734..22294902-chr10:22609249..22612882,8	MCF-7	breast:
2	chr10:22289174..22294396-chr10:22603847..22611692,9	K562	blood:
3	chr10:22608333..22611559-chr10:22678806..22682635,4	K562	blood:
4	chr10:21784438..21786291-chr10:22610167..22612882,2	MCF-7	breast:
5	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
6	chr10:21823004..21824663-chr10:22608853..22611559,3	K562	blood:
7	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
8	chr10:22607781..22611461-chr10:22678220..22681015,4	K562	blood:
9	chr10:22291600..22293553-chr10:22610568..22612192,2	K562	blood:

Variant related genes	Relation type
BMI1	TF binding region
ENSG00000272366	Chromatin interaction
ENSG00000222071	Chromatin interaction
ENSG00000078403	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000204682	Chromatin interaction
ENSG00000261671	Chromatin interaction
ENSG00000077327	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 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	esv3321548	chr10:22607546-22611844	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
28	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
29	esv3342642	chr10:22608771-22612319	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
30	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
31	esv3326480	chr10:22609396-22611644	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22608800-22611400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr10:22608800-22611800	Active TSS	HSMMtube	muscle
3	chr10:22608800-22612400	Active TSS	Psoas Muscle	Psoas
4	chr10:22609000-22611400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr10:22609000-22611400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:22609000-22611600	Active TSS	Stomach Smooth Muscle	stomach
7	chr10:22609000-22611800	Active TSS	Aorta	Aorta
8	chr10:22609000-22611800	Active TSS	Ovary	ovary
9	chr10:22609000-22612000	Active TSS	Right Ventricle	heart
10	chr10:22609200-22611400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:22609200-22611400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr10:22609200-22611400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:22609200-22611600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:22609200-22611600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:22609200-22611600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr10:22609200-22611600	Active TSS	Lung	lung
17	chr10:22609200-22611800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr10:22609200-22611800	Active TSS	Pancreas	Pancrea
19	chr10:22609400-22611400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr10:22610000-22611600	Active TSS	Spleen	Spleen
21	chr10:22610000-22611800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:22610000-22611800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
23	chr10:22610200-22611400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:22610200-22611400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr10:22610200-22611400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:22610200-22611400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:22610200-22611400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr10:22610200-22611400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:22610200-22611400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr10:22610200-22611400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:22610200-22611400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr10:22610200-22611400	Active TSS	Colon Smooth Muscle	Colon
33	chr10:22610200-22611400	Active TSS	Gastric	stomach
34	chr10:22610200-22611600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:22610200-22611600	Active TSS	Brain Angular Gyrus	brain
36	chr10:22610200-22611800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr10:22610200-22611800	Active TSS	Brain Substantia Nigra	brain
38	chr10:22610200-22612200	Active TSS	Brain Cingulate Gyrus	brain
39	chr10:22610200-22612400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:22610400-22611400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:22610400-22611400	Active TSS	Fetal Brain Male	brain
42	chr10:22610400-22611400	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr10:22610400-22611400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
44	chr10:22610400-22611600	Bivalent/Poised TSS	HepG2	liver
45	chr10:22610400-22611800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:22610400-22612000	Active TSS	Right Atrium	heart
47	chr10:22610400-22612000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
48	chr10:22610600-22611600	Bivalent/Poised TSS	Esophagus	oesophagus
49	chr10:22610600-22611800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:22611000-22611400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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