Variant report

Variant	rs2642369
Chromosome Location	chr8:104302410-104302411
allele	A/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	GATA3	chr8:104301758-104302657	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:104301726-104302562	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr8:104302355-104302747	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF12	chr8:104301738-104302540	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr8:104301873-104302493	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr8:104301756-104302453	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr8:104301733-104302662	SK-N-SH	brain:	n/a	n/a
8	JUND	chr8:104300834-104302553	SK-N-SH	brain:	n/a	n/a
9	EP300	chr8:104301749-104302494	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000247081	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1095715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989069	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11990999	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11998139	0.88[ASN][1000 genomes]
rs11998144	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16870322	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2642365	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808558	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs56136557	0.88[ASN][1000 genomes]
rs56730525	0.88[ASN][1000 genomes]
rs61066888	0.88[ASN][1000 genomes]
rs67763699	0.83[ASN][1000 genomes]
rs6985705	0.81[ASN][1000 genomes]
rs73286017	0.88[ASN][1000 genomes]
rs73699758	0.88[ASN][1000 genomes]
rs73699761	0.88[ASN][1000 genomes]
rs7827146	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7834297	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs827526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827528	0.84[EUR][1000 genomes]
rs827537	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs827538	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs827539	0.81[AFR][1000 genomes]
rs827540	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827546	0.85[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104293800-104310000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:104294000-104306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:104295400-104305600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:104300200-104302800	Enhancers	NHDF-Ad	bronchial
6	chr8:104300400-104302800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104300400-104305600	Weak transcription	NHLF	lung
8	chr8:104300800-104302600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:104300800-104302600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:104301000-104306000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:104301400-104305600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104302000-104302600	Enhancers	Fetal Heart	heart
13	chr8:104302400-104302600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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