Variant report

Variant	rs11987295
Chromosome Location	chr8:121771536-121771537
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	GATA3	chr8:121771473-121771661	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr8:121766651-121775608	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248318	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10094974	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110929	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987096	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11994211	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997726	1.00[EUR][1000 genomes]
rs12334417	0.85[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334422	1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334676	1.00[YRI][hapmap]
rs12334938	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334939	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375696	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28682880	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34459319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4545142	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	1.00[EUR][1000 genomes]
rs6985486	1.00[TSI][hapmap]
rs6990646	1.00[EUR][1000 genomes]
rs6990988	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73323171	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7459773	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829568	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
2	chr8:121758200-121774400	Weak transcription	Left Ventricle	heart
3	chr8:121758400-121771800	Weak transcription	Pancreas	Pancrea
4	chr8:121758400-121774400	Weak transcription	Lung	lung
5	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
6	chr8:121762000-121774200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:121765400-121772200	Genic enhancers	HepG2	liver
10	chr8:121766000-121773000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:121767800-121780400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:121769000-121772200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:121769000-121773000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:121769200-121772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:121769200-121786400	Weak transcription	Placenta	Placenta
16	chr8:121769800-121774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:121769800-121788400	Weak transcription	Gastric	stomach
18	chr8:121770000-121771600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:121770000-121774400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:121770000-121774400	Weak transcription	HSMM	muscle
21	chr8:121770000-121775800	Enhancers	Liver	Liver
22	chr8:121770000-121777400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:121770000-121786600	Weak transcription	Thymus	Thymus
24	chr8:121770200-121773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:121770200-121773800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:121770200-121774200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:121770200-121774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:121770200-121774400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:121770200-121774400	Weak transcription	Hela-S3	cervix
30	chr8:121770200-121788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:121770400-121773600	Weak transcription	HSMMtube	muscle
34	chr8:121770400-121774400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:121770600-121780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:121770800-121772800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:121770800-121773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:121770800-121774200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:121770800-121774200	Weak transcription	Osteobl	bone
40	chr8:121771000-121772800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:121771000-121773800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:121771000-121773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:121771000-121774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:121771000-121774200	Weak transcription	NHDF-Ad	bronchial
45	chr8:121771000-121774400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:121771000-121774400	Weak transcription	Psoas Muscle	Psoas
47	chr8:121771000-121776600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:121771000-121777200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:121771000-121780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:121771000-121782000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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