Variant report

Variant	rs12263200
Chromosome Location	chr10:94822895-94822896
allele	G/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	MAX	chr10:94822317-94822965	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:94822268-94822928	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr10:94822205-94823183	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr10:94819717-94824643	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr10:94822281-94823044	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94822689..94825636-chr10:94825703..94828168,2	K562	blood:
2	chr10:94818208..94820843-chr10:94822190..94823877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226425	TF binding region
ENSG00000226425	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10509649	0.82[AMR][1000 genomes]
rs10748590	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187243	0.85[AMR][1000 genomes]
rs11187247	0.89[AMR][1000 genomes]
rs11187252	0.89[AMR][1000 genomes]
rs11187257	0.84[AMR][1000 genomes]
rs11187258	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187259	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187260	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187263	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187264	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11187265	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1222605	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354891	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12358168	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238178	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12413378	0.82[AMR][1000 genomes]
rs12416051	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339820	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475366	0.89[AMR][1000 genomes]
rs17108036	0.80[AMR][1000 genomes]
rs17108042	0.82[AMR][1000 genomes]
rs17108043	0.82[AMR][1000 genomes]
rs17108050	0.82[AMR][1000 genomes]
rs1750741	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2478233	0.85[AFR][1000 genomes]
rs2478238	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486682	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486683	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486686	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486687	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35630863	0.89[ASN][1000 genomes]
rs4581378	0.89[ASN][1000 genomes]
rs4917898	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919044	0.82[AMR][1000 genomes]
rs4919592	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55661575	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55853605	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55856996	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58993699	0.89[ASN][1000 genomes]
rs59539045	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61568973	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61863079	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61863080	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61863087	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73317384	0.89[ASN][1000 genomes]
rs73319304	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319347	0.89[ASN][1000 genomes]
rs73319398	0.89[ASN][1000 genomes]
rs7895700	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835256	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835257	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835258	0.89[ASN][1000 genomes]
rs835260	0.89[ASN][1000 genomes]
rs835261	0.89[ASN][1000 genomes]
rs835262	0.89[ASN][1000 genomes]
rs835263	0.89[ASN][1000 genomes]
rs835265	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835269	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs835270	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835271	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835274	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835275	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835277	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835279	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs835280	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844341	0.89[ASN][1000 genomes]
rs860669	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9419761	0.89[ASN][1000 genomes]
rs9419763	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9419765	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9419766	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9420603	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9420607	0.89[ASN][1000 genomes]
rs9420608	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9420610	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94811800-94825000	Weak transcription	HepG2	liver
2	chr10:94819600-94823600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:94819800-94823600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:94819800-94827800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:94820000-94823600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:94820400-94823400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr10:94821000-94823000	Enhancers	Pancreas	Pancrea
8	chr10:94821400-94823000	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr10:94821400-94823200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:94821400-94823400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:94821600-94823000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
12	chr10:94821600-94823000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:94821600-94823200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:94821600-94823200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:94821600-94823200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:94821600-94823400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:94821600-94823600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
20	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:94821800-94823000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
24	chr10:94821800-94823000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr10:94821800-94823000	Flanking Bivalent TSS/Enh	HMEC	breast
26	chr10:94821800-94823200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:94821800-94823200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr10:94821800-94823200	Bivalent Enhancer	Fetal Brain Male	brain
29	chr10:94821800-94823200	Enhancers	Lung	lung
30	chr10:94822000-94823000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:94822000-94823200	Bivalent/Poised TSS	HSMM	muscle
32	chr10:94822000-94823400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:94822000-94826800	Weak transcription	Dnd41	blood
34	chr10:94822200-94823000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:94822200-94823000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:94822200-94823000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr10:94822200-94823000	Flanking Bivalent TSS/Enh	Ovary	ovary
38	chr10:94822200-94823200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr10:94822400-94823000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:94822400-94823000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr10:94822400-94823000	Bivalent Enhancer	Fetal Lung	lung
42	chr10:94822400-94823000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
43	chr10:94822400-94823200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:94822400-94823200	Enhancers	Liver	Liver
45	chr10:94822400-94823200	Bivalent Enhancer	Esophagus	oesophagus
46	chr10:94822400-94823200	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr10:94822400-94823400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr10:94822400-94823400	Enhancers	Spleen	Spleen
49	chr10:94822400-94823600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr10:94822400-94823600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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