Variant report

Variant	rs702634
Chromosome Location	chr5:53271420-53271421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1664781	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1664791	0.81[ASN][1000 genomes]
rs1664793	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.84[ASN][1000 genomes]
rs1664794	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs1664795	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1664796	0.83[ASN][1000 genomes]
rs1664797	0.83[ASN][1000 genomes]
rs1664798	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs1694067	0.86[ASN][1000 genomes]
rs1694070	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1694071	0.87[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs4865796	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs878781	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.84[ASN][1000 genomes]
rs895356	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv880272	chr5:53213945-53277266	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1024281	chr5:53262337-53282335	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Type 2 diabetes	24509480	GWAS catalog

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53253600-53294800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:53255600-53286200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:53256800-53310000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:53258000-53274000	Weak transcription	K562	blood
5	chr5:53259200-53276600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:53259400-53275800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:53260400-53273400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:53262600-53271600	Weak transcription	Pancreas	Pancrea
9	chr5:53264600-53272600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:53265600-53276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:53268000-53272000	Weak transcription	Stomach Mucosa	stomach
12	chr5:53270600-53272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:53270800-53272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:53271000-53271600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:53271400-53271600	Enhancers	Gastric	stomach

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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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