Variant report

Variant	rs10094974
Chromosome Location	chr8:121772792-121772793
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	NFIC	chr8:121772171-121773047	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:121772150-121772799	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:121766651-121775608	HepG2	liver:	n/a	n/a
4	FOXA2	chr8:121771902-121773381	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000248318	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10110929	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987096	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987139	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994211	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997726	1.00[EUR][1000 genomes]
rs12334417	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334422	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334938	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334939	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375696	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28680434	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28682880	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34459319	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4545142	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	1.00[EUR][1000 genomes]
rs6990646	1.00[EUR][1000 genomes]
rs6990988	1.00[EUR][1000 genomes]
rs73323171	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73323176	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323186	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7459773	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829568	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	chr8:121758400-121774400	Weak transcription	Lung	lung
4	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
5	chr8:121762000-121774200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:121766000-121773000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:121767800-121780400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:121769000-121773000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:121769200-121786400	Weak transcription	Placenta	Placenta
12	chr8:121769800-121774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:121769800-121788400	Weak transcription	Gastric	stomach
14	chr8:121770000-121774400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:121770000-121774400	Weak transcription	HSMM	muscle
16	chr8:121770000-121775800	Enhancers	Liver	Liver
17	chr8:121770000-121777400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:121770000-121786600	Weak transcription	Thymus	Thymus
19	chr8:121770200-121773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:121770200-121773800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:121770200-121774200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:121770200-121774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:121770200-121774400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:121770200-121774400	Weak transcription	Hela-S3	cervix
25	chr8:121770200-121788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:121770200-121797400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:121770200-121798600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:121770400-121773600	Weak transcription	HSMMtube	muscle
29	chr8:121770400-121774400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:121770600-121780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:121770800-121772800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:121770800-121773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:121770800-121774200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:121770800-121774200	Weak transcription	Osteobl	bone
35	chr8:121771000-121772800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:121771000-121773800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:121771000-121773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:121771000-121774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:121771000-121774200	Weak transcription	NHDF-Ad	bronchial
40	chr8:121771000-121774400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:121771000-121774400	Weak transcription	Psoas Muscle	Psoas
42	chr8:121771000-121776600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:121771000-121777200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:121771000-121780400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:121771000-121782000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:121771200-121773800	Weak transcription	NHLF	lung
47	chr8:121772000-121773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:121772000-121774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:121772200-121772800	Weak transcription	Primary T cells from cord blood	blood
50	chr8:121772200-121774400	Weak transcription	Aorta	Aorta

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