Variant report

Variant	rs28375696
Chromosome Location	chr8:121769845-121769846
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	chr8:121769346-121769977	HepG2	liver:	n/a	n/a
2	IKZF1	chr8:121769480-121770092	GM12878	blood:	n/a	n/a
3	MAZ	chr8:121769726-121770064	GM12878	blood:	n/a	n/a
4	ATF2	chr8:121769503-121769945	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr8:121769625-121769956	GM12878	blood:	n/a	n/a
6	BCL11A	chr8:121769593-121769981	GM12878	blood:	n/a	n/a
7	BATF	chr8:121769422-121770001	GM12878	blood:	n/a	n/a
8	ATF2	chr8:121769602-121769939	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:121766651-121775608	HepG2	liver:	n/a	n/a
10	EP300	chr8:121769648-121769970	GM12878	blood:	n/a	chr8:121769705-121769713
11	BHLHE40	chr8:121769627-121770156	GM12878	blood:	n/a	n/a
12	EP300	chr8:121769505-121770116	GM12878	blood:	n/a	chr8:121769705-121769713 chr8:121769614-121769628
13	BATF	chr8:121769573-121769922	GM12878	blood:	n/a	n/a
14	IRF4	chr8:121769565-121769973	GM12878	blood:	n/a	n/a
15	NFIC	chr8:121769653-121769994	GM12878	blood:	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:28)

rs_ID	r²[population]
rs10094974	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10110929	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987096	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987139	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994211	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997726	1.00[EUR][1000 genomes]
rs12334417	1.00[EUR][1000 genomes]
rs12334422	1.00[EUR][1000 genomes]
rs12334938	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334939	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680434	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28682880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34459319	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4545142	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	0.87[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323176	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323186	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7459773	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829568	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv518569	chr8:121762686-121770556	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv527375	chr8:121763046-121770556	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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:61 , 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	chr8:121758400-121770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:121758400-121771800	Weak transcription	Pancreas	Pancrea
5	chr8:121758400-121774400	Weak transcription	Lung	lung
6	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
7	chr8:121762000-121774200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:121763200-121781600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:121763400-121770000	Weak transcription	Liver	Liver
10	chr8:121764400-121780200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:121765400-121772200	Genic enhancers	HepG2	liver
12	chr8:121766000-121773000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:121766600-121770400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:121767800-121780400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:121768000-121770000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:121768600-121771000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:121768800-121771000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:121769000-121770200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121769000-121770800	Enhancers	Osteobl	bone
20	chr8:121769000-121772200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:121769000-121773000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:121769200-121770200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:121769200-121770200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:121769200-121770200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:121769200-121770200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:121769200-121770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:121769200-121770200	Enhancers	GM12878-XiMat	blood
28	chr8:121769200-121770600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:121769200-121770800	Enhancers	Primary T cells from cord blood	blood
30	chr8:121769200-121771000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr8:121769200-121772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:121769200-121786400	Weak transcription	Placenta	Placenta
33	chr8:121769400-121770000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:121769400-121770000	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:121769400-121770000	Enhancers	Thymus	Thymus
36	chr8:121769400-121770000	Enhancers	HSMM	muscle
37	chr8:121769400-121770200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:121769400-121770200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:121769400-121770200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:121769400-121770200	Enhancers	Hela-S3	cervix
41	chr8:121769400-121770400	Enhancers	Psoas Muscle	Psoas
42	chr8:121769400-121770400	Enhancers	HSMMtube	muscle
43	chr8:121769400-121770800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:121769400-121770800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:121769400-121770800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:121769400-121771000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:121769400-121771000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:121769400-121771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:121769400-121771000	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr8:121769400-121771000	Enhancers	NHDF-Ad	bronchial

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