Variant report

Variant	rs2812713
Chromosome Location	chr6:80366532-80366533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1009742	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1883878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235880	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2473826	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2746314	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2746316	0.89[EUR][1000 genomes]
rs2746317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2812701	0.87[ASN][1000 genomes]
rs2812703	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812708	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927296	0.86[JPT][hapmap]
rs980225	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr6:80350600-80373600	Weak transcription	Gastric	stomach
2	chr6:80358400-80377800	Weak transcription	Spleen	Spleen
3	chr6:80359600-80376000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:80360000-80377800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:80360000-80378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:80361800-80373400	Weak transcription	Fetal Intestine Large	intestine
7	chr6:80361800-80373400	Weak transcription	Left Ventricle	heart
8	chr6:80362000-80373000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:80365000-80373600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:80365400-80378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:80365600-80366600	Enhancers	NHEK	skin
12	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
13	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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