Variant report

Variant	rs7083243
Chromosome Location	chr10:22629951-22629952
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	POLR2A	chr10:22629293-22630352	A549	lung:	n/a	n/a
2	POLR2A	chr10:22629751-22630192	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr10:22629109-22630192	HCT-116	colon:	n/a	n/a
4	RCOR1	chr10:22628910-22630409	K562	blood:	n/a	n/a
5	MAX	chr10:22628764-22630580	A549	lung:	n/a	chr10:22629645-22629655
6	ZMIZ1	chr10:22629114-22630181	K562	blood:	n/a	n/a
7	CCNT2	chr10:22629104-22630607	K562	blood:	n/a	chr10:22629697-22629706
8	SIN3AK20	chr10:22629261-22630076	K562	blood:	n/a	n/a
9	RAD21	chr10:22629218-22629980	IMR90	lung:	n/a	chr10:22629720-22629734 chr10:22629721-22629735
10	CREB1	chr10:22628990-22630192	GM12878	blood:	n/a	n/a
11	MAX	chr10:22628984-22630393	ECC-1	luminal epithelium:	n/a	chr10:22629645-22629655
12	BCLAF1	chr10:22629133-22629972	GM12878	blood:	n/a	chr10:22629788-22629797 chr10:22629529-22629542
13	MAZ	chr10:22628921-22630448	IMR90	lung:	n/a	chr10:22629645-22629655
14	MAX	chr10:22629932-22630320	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr10:22629869-22630341	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr10:22629230-22630349	HepG2	liver:	n/a	n/a
17	REST	chr10:22629799-22630008	K562	blood:	n/a	chr10:22629884-22629897 chr10:22629882-22629892
18	POLR2A	chr10:22628952-22630670	GM12891	blood:	n/a	n/a
19	SIN3A	chr10:22629839-22630065	GM12878	blood:	n/a	n/a
20	MYC	chr10:22629497-22630302	MCF-7	breast:	n/a	chr10:22629645-22629655
21	MAX	chr10:22629872-22630093	K562	blood:	n/a	n/a
22	TAF1	chr10:22629024-22630119	K562	blood:	n/a	n/a
23	REST	chr10:22629238-22630343	K562	blood:	n/a	chr10:22629884-22629897 chr10:22630191-22630211 chr10:22630195-22630208 chr10:22629882-22629892
24	POLR2A	chr10:22629183-22630516	GM18526	blood:	n/a	n/a
25	ELF1	chr10:22629122-22630211	GM12878	blood:	n/a	chr10:22629603-22629615
26	RUNX3	chr10:22629676-22630265	GM12878	blood:	n/a	n/a
27	TCF7L2	chr10:22629238-22630488	HCT-116	colon:	n/a	n/a
28	YY1	chr10:22629264-22630052	GM12892	blood:	n/a	chr10:22629878-22629892 chr10:22629874-22629885 chr10:22629376-22629390 chr10:22629776-22629787 chr10:22629650-22629664 chr10:22629695-22629706
29	POLR2A	chr10:22629156-22630060	GM12892	blood:	n/a	n/a
30	CHD1	chr10:22629622-22630207	GM12878	blood:	n/a	chr10:22629793-22629800
31	STAT1	chr10:22629930-22630263	GM12878	blood:	n/a	chr10:22630117-22630124
32	SMARCB1	chr10:22629297-22630532	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr10:22629265-22630436	GM12878	blood:	n/a	chr10:22629603-22629615
34	HEY1	chr10:22628891-22630504	K562	blood:	n/a	chr10:22629645-22629660 chr10:22629654-22629669 chr10:22629534-22629549 chr10:22629609-22629624
35	RCOR1	chr10:22629030-22629960	GM12878	blood:	n/a	n/a
36	CTBP2	chr10:22629300-22630502	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr10:22629646-22630122	HepG2	liver:	n/a	chr10:22629654-22629669
38	POLR2A	chr10:22629183-22630464	GM12892	blood:	n/a	n/a
39	POLR2A	chr10:22629168-22630610	GM12878	blood:	n/a	n/a
40	YY1	chr10:22629788-22630088	K562	blood:	n/a	chr10:22629878-22629892 chr10:22629874-22629885
41	HCFC1	chr10:22629070-22630507	K562	blood:	n/a	n/a
42	TAF1	chr10:22629153-22630156	K562	blood:	n/a	n/a
43	YY1	chr10:22629285-22630098	GM12891	blood:	n/a	chr10:22629878-22629892 chr10:22629874-22629885 chr10:22629376-22629390 chr10:22629776-22629787 chr10:22629650-22629664 chr10:22629695-22629706
44	YY1	chr10:22629275-22630076	HepG2	liver:	n/a	chr10:22629878-22629892 chr10:22629874-22629885 chr10:22629376-22629390 chr10:22629776-22629787 chr10:22629650-22629664 chr10:22629695-22629706
45	POLR2A	chr10:22629162-22630532	ProgFib	skin:	n/a	n/a
46	POLR2A	chr10:22628920-22630590	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr10:22629696-22630355	U87	brain:	n/a	n/a
48	EBF1	chr10:22629743-22630493	GM12878	blood:	n/a	chr10:22630285-22630298
49	MAZ	chr10:22629437-22630317	HepG2	liver:	n/a	chr10:22629645-22629655
50	POLR2A	chr10:22628950-22630766	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22290966..22293742-chr10:22628058..22631636,3	MCF-7	breast:
2	chr10:22603818..22606688-chr10:22628346..22630666,3	MCF-7	breast:
3	chr10:22629489..22630407-chr17:30676764..30677278,2	Hela-S3	cervix:
4	chr10:22629399..22631844-chr10:22647631..22650526,2	MCF-7	breast:
5	chr10:22628552..22630846-chr8:144350757..144353211,2	MCF-7	breast:
6	chr10:22625398..22631647-chr10:22676300..22682265,8	K562	blood:
7	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
8	chr10:22519765..22522159-chr10:22629755..22632130,2	K562	blood:
9	chr10:22628696..22632444-chr10:22679412..22682265,6	K562	blood:

Variant related genes	Relation type
ENSG00000272366	TF binding region
SPAG6	TF binding region
ENSG00000168283	Chromatin interaction
ENSG00000077327	Chromatin interaction
ENSG00000136770	Chromatin interaction
ENSG00000233451	Chromatin interaction
ENSG00000108666	Chromatin interaction
ENSG00000250571	Chromatin interaction
ENSG00000207928	Chromatin interaction
ENSG00000269897	Chromatin interaction
ENSG00000148444	Chromatin interaction
ENSG00000010244	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10828303	0.85[AMR][1000 genomes]
rs10828304	0.83[AMR][1000 genomes]
rs11012938	0.85[AMR][1000 genomes]
rs11012939	0.85[AMR][1000 genomes]
rs11012941	0.85[AMR][1000 genomes]
rs11012942	0.85[AMR][1000 genomes]
rs11012953	1.00[AMR][1000 genomes]
rs11012955	1.00[AMR][1000 genomes]
rs11012956	1.00[AMR][1000 genomes]
rs11012960	1.00[AMR][1000 genomes]
rs11012961	0.83[AMR][1000 genomes]
rs11012965	1.00[AMR][1000 genomes]
rs11012966	0.81[AFR][1000 genomes]
rs11012967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11012973	1.00[AMR][1000 genomes]
rs12240495	0.85[AMR][1000 genomes]
rs12240577	0.85[AMR][1000 genomes]
rs12245533	1.00[AMR][1000 genomes]
rs12254277	0.83[AMR][1000 genomes]
rs12255961	0.85[AMR][1000 genomes]
rs12257451	0.83[AMR][1000 genomes]
rs12258156	1.00[AMR][1000 genomes]
rs12263397	0.85[AMR][1000 genomes]
rs12263441	0.85[AMR][1000 genomes]
rs12263897	0.85[AMR][1000 genomes]
rs16922163	0.85[AMR][1000 genomes]
rs16922183	0.83[AMR][1000 genomes]
rs2026632	1.00[AMR][1000 genomes]
rs6482207	1.00[AMR][1000 genomes]
rs7069551	0.85[AMR][1000 genomes]
rs7071244	0.85[AMR][1000 genomes]
rs7072756	0.85[AMR][1000 genomes]
rs7073046	0.85[AMR][1000 genomes]
rs7073585	1.00[AMR][1000 genomes]
rs7082672	0.85[AMR][1000 genomes]
rs7085030	0.85[AMR][1000 genomes]
rs7085161	0.85[AMR][1000 genomes]
rs7086440	0.85[AMR][1000 genomes]
rs7088499	0.83[AMR][1000 genomes]
rs729111	0.83[AMR][1000 genomes]
rs7893841	1.00[AMR][1000 genomes]
rs7900105	1.00[AMR][1000 genomes]
rs7904484	1.00[AMR][1000 genomes]
rs7913881	0.85[AMR][1000 genomes]
rs7916150	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22628800-22630000	Active TSS	HMEC	breast
2	chr10:22628800-22630200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:22628800-22630200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:22628800-22630200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:22628800-22630200	Active TSS	Brain Substantia Nigra	brain
6	chr10:22628800-22630200	Active TSS	Placenta Amnion	Placenta Amnion
7	chr10:22628800-22630400	Active TSS	Brain Angular Gyrus	brain
8	chr10:22628800-22630400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:22628800-22630400	Active TSS	HSMMtube	muscle
10	chr10:22628800-22630600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:22628800-22630600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr10:22628800-22630600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr10:22628800-22630600	Active TSS	Psoas Muscle	Psoas
14	chr10:22628800-22630800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:22629000-22630000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr10:22629000-22630000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr10:22629000-22630000	Active TSS	Colonic Mucosa	Colon
18	chr10:22629000-22630000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr10:22629000-22630000	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:22629000-22630200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:22629000-22630200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:22629000-22630200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:22629000-22630400	Active TSS	Brain Hippocampus Middle	brain
24	chr10:22629000-22630400	Active TSS	A549	lung
25	chr10:22629000-22630600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:22629000-22630600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr10:22629000-22630600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:22629000-22630600	Active TSS	Aorta	Aorta
29	chr10:22629000-22630600	Active TSS	Ovary	ovary
30	chr10:22629000-22630600	Active TSS	Hela-S3	cervix
31	chr10:22629000-22630600	Active TSS	HSMM	muscle
32	chr10:22629000-22630800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:22629000-22631000	Active TSS	Right Atrium	heart
34	chr10:22629200-22630000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:22629200-22630000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:22629200-22630000	Active TSS	Primary B cells from cord blood	blood
37	chr10:22629200-22630000	Active TSS	Primary B cells from peripheral blood	blood
38	chr10:22629200-22630000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:22629200-22630000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:22629200-22630000	Active TSS	Adipose Nuclei	Adipose
41	chr10:22629200-22630000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:22629200-22630000	Active TSS	Esophagus	oesophagus
43	chr10:22629200-22630000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr10:22629200-22630000	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr10:22629200-22630000	Active TSS	Fetal Muscle Leg	muscle
46	chr10:22629200-22630000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr10:22629200-22630000	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr10:22629200-22630000	Active TSS	NH-A	brain
49	chr10:22629200-22630000	Active TSS	NHEK	skin
50	chr10:22629200-22630200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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