Variant report

Variant	rs56368196
Chromosome Location	chr8:121653611-121653612
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	CHD2	chr8:121653567-121653874	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr8:121653523-121653898	T-47D	breast:	n/a	chr8:121653846-121653862 chr8:121653850-121653859
3	EP300	chr8:121653432-121653852	T-47D	breast:	n/a	n/a
4	TCF7L2	chr8:121653381-121653961	Hela-S3	cervix:	n/a	n/a
5	FOXA1	chr8:121653586-121653856	T-47D	breast:	n/a	n/a
6	FOXA1	chr8:121653505-121653862	T-47D	breast:	n/a	chr8:121653530-121653542
7	MYC	chr8:121653587-121653829	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr8:121653472-121653875	Hela-S3	cervix:	n/a	n/a
9	NFIC	chr8:121653462-121653903	ECC-1	luminal epithelium:	n/a	n/a
10	RCOR1	chr8:121653434-121653864	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr8:121653475-121653792	Hela-S3	cervix:	n/a	chr8:121653585-121653599 chr8:121653695-121653703 chr8:121653591-121653599
12	TCF7L2	chr8:121653377-121653935	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr8:121653521-121653855	MCF10A-Er-Src	breast:	n/a	chr8:121653585-121653599 chr8:121653695-121653703 chr8:121653591-121653599
14	CEBPB	chr8:121653484-121653933	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000250290	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58992112	0.87[ASN][1000 genomes]
rs6995376	0.96[ASN][1000 genomes]
rs72609833	0.84[ASN][1000 genomes]
rs7822135	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840831	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
2	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121633600-121654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:121640600-121654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:121644200-121666800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:121644800-121664400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:121644800-121664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:121644800-121674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:121645000-121654600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:121645000-121655200	Weak transcription	HSMM	muscle
11	chr8:121645000-121655200	Weak transcription	HSMMtube	muscle
12	chr8:121645000-121664400	Weak transcription	NHLF	lung
13	chr8:121645000-121666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:121645000-121673000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:121645200-121655000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:121645200-121655400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:121645200-121665200	Weak transcription	Primary B cells from cord blood	blood
18	chr8:121645400-121653800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:121645400-121662400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:121645600-121662400	Weak transcription	Primary T cells from cord blood	blood
21	chr8:121646400-121666800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:121650600-121654200	Weak transcription	HepG2	liver
23	chr8:121653200-121656400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121653200-121656400	Strong transcription	Liver	Liver
25	chr8:121653400-121654800	Enhancers	Hela-S3	cervix
26	chr8:121653400-121655400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:121653600-121654400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:121653600-121654400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:121653600-121654400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:121653600-121654600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:121653600-121654800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:121653600-121655400	Enhancers	Placenta	Placenta
33	chr8:121653600-121656400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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