Variant report

Variant	rs2018362
Chromosome Location	chr8:91710996-91710997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:91710491-91711260	MCF-7	breast:	n/a	n/a
2	GATA3	chr8:91710334-91711141	MCF-7	breast:	n/a	n/a
3	ZNF217	chr8:91710568-91711095	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:91710356-91711212	MCF-7	breast:	n/a	n/a
5	GATA3	chr8:91710393-91711026	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91656804..91661563-chr8:91708196..91711491,5	MCF-7	breast:
2	chr8:91709152..91711337-chr8:91764689..91766371,2	MCF-7	breast:
3	chr8:91703739..91707372-chr8:91708045..91711511,5	K562	blood:
4	chr8:91703619..91705136-chr8:91710451..91712123,2	MCF-7	breast:
5	chr8:91656752..91660080-chr8:91707988..91711450,4	MCF-7	breast:
6	chr8:91710184..91712284-chr8:91713159..91715653,2	MCF-7	breast:
7	chr8:91708540..91711261-chr8:91799440..91801904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254182	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000254182	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10453062	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11995465	0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28609363	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4412336	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55933348	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55950958	0.98[AFR][1000 genomes]
rs59008785	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60872945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694549	1.00[AFR][1000 genomes];1.00[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91705600-91711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:91705600-91711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:91705600-91712400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:91705800-91711600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:91705800-91712800	Weak transcription	Osteobl	bone
7	chr8:91705800-91713000	Weak transcription	NH-A	brain
8	chr8:91707200-91713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:91707400-91711200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:91707400-91711800	Weak transcription	NHDF-Ad	bronchial
11	chr8:91707400-91712400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:91707400-91712600	Weak transcription	NHLF	lung
13	chr8:91707400-91713200	Weak transcription	Ovary	ovary
14	chr8:91707600-91711400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:91707600-91712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:91707800-91711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:91707800-91713000	Weak transcription	HSMM	muscle
18	chr8:91710000-91712600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:91710400-91711800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:91710600-91711400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:91710800-91711200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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