Variant report

Variant	rs17693451
Chromosome Location	chr8:10087393-10087394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10503403	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11987560	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs17151373	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17692982	0.84[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs2952248	1.00[MEX][hapmap]
rs2975735	1.00[MEX][hapmap]
rs4383975	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs4383976	0.82[EUR][1000 genomes]
rs4474025	0.84[CEU][hapmap];0.84[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs4537306	0.92[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs59290735	0.85[AMR][1000 genomes]
rs59910171	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60007481	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60047017	0.85[AMR][1000 genomes]
rs60351321	0.81[EUR][1000 genomes]
rs66899205	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67943945	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv890345	chr8:10068073-10093228	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890346	chr8:10075373-10103435	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 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	chr8:10060200-10103000	Weak transcription	Gastric	stomach
2	chr8:10073000-10089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:10078800-10102800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:10078800-10103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10079200-10102600	Weak transcription	Fetal Brain Female	brain
6	chr8:10079400-10089600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:10086000-10087800	Enhancers	HMEC	breast
8	chr8:10086200-10087800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:10086800-10087600	Flanking Active TSS	NHEK	skin
10	chr8:10087000-10087600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:10087000-10087800	Enhancers	Spleen	Spleen
12	chr8:10087200-10087600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:10087200-10087800	Enhancers	Placenta Amnion	Placenta Amnion

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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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