Variant report

Variant	rs17655247
Chromosome Location	chr6:35922292-35922293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10484265	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884650	1.00[CHD][hapmap]
rs17656051	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815806	0.86[MEX][hapmap]
rs34982564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534912	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61171193	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457879	0.86[MEX][hapmap]
rs73405829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs851021	0.86[MEX][hapmap]
rs851023	0.86[MEX][hapmap]
rs916344	0.85[MEX][hapmap]
rs916346	0.86[MEX][hapmap]
rs9470180	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][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	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17655247	SLC26A8	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35890400-35930200	Weak transcription	Pancreas	Pancrea
2	chr6:35910200-35930200	Weak transcription	Spleen	Spleen
3	chr6:35912000-35926400	Weak transcription	Right Atrium	heart
4	chr6:35916200-35932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:35919800-35923600	Enhancers	HMEC	breast
6	chr6:35920200-35923000	Weak transcription	NH-A	brain
7	chr6:35920200-35923200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:35920400-35923200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:35920400-35932200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:35920600-35923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:35920600-35923000	Weak transcription	HUVEC	blood vessel
12	chr6:35920600-35923000	Weak transcription	NHDF-Ad	bronchial
13	chr6:35921600-35922400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:35921600-35923200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr6:35922000-35922600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:35922000-35924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:35922200-35922400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:35922200-35922400	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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