Variant report

Variant	rs17636252
Chromosome Location	chr6:117801030-117801031
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	EP300	chr6:117800997-117801286	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117799806..117802489-chr6:117925663..117927637,2	MCF-7	breast:
2	chr6:117797620..117801329-chr6:117802925..117805407,3	MCF-7	breast:
3	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10080784	1.00[JPT][hapmap]
rs10484300	1.00[LWK][hapmap]
rs1123836	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11757765	1.00[JPT][hapmap]
rs11758857	1.00[JPT][hapmap]
rs11961502	1.00[LWK][hapmap]
rs1321808	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1321809	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1321810	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1321811	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17079201	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs17079205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs17165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17573446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17574179	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17574269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17575449	1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs17635492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17636431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2301424	1.00[LWK][hapmap]
rs6932793	1.00[JPT][hapmap]
rs6940229	1.00[JPT][hapmap]
rs7453460	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9320602	1.00[JPT][hapmap]
rs9320603	1.00[JPT][hapmap]
rs9481717	1.00[JPT][hapmap]
rs9481718	1.00[JPT][hapmap]
rs9489195	1.00[JPT][hapmap]
rs9489198	1.00[JPT][hapmap]

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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117798600-117802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:117798800-117801400	Enhancers	Liver	Liver
3	chr6:117799800-117803000	Weak transcription	Ovary	ovary
4	chr6:117800000-117802000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:117800000-117802400	Weak transcription	Stomach Mucosa	stomach
6	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:117800000-117803200	Weak transcription	HSMM	muscle
9	chr6:117800200-117801800	Weak transcription	A549	lung
10	chr6:117800200-117801800	Enhancers	HepG2	liver
11	chr6:117800200-117802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:117800200-117802600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:117800200-117802600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:117800200-117802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:117800200-117802600	Weak transcription	Fetal Intestine Large	intestine
16	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
17	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
18	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
19	chr6:117800400-117802600	Weak transcription	GM12878-XiMat	blood
20	chr6:117800600-117801400	Enhancers	Pancreatic Islets	Pancreatic Islet

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