Variant report

Variant	rs9497715
Chromosome Location	chr6:147480581-147480582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1529012	1.00[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2165423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328805	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6902219	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909582	0.86[JPT][hapmap]
rs6915603	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917323	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6920262	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322091	1.00[JPT][hapmap]
rs9322092	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485144	0.86[ASN][1000 genomes]
rs9485147	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485149	1.00[JPT][hapmap]
rs9497707	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9497709	1.00[CEU][hapmap]
rs9497710	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147475800-147482800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr6:147476400-147482800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:147476400-147482800	Weak transcription	NHEK	skin
4	chr6:147477400-147480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:147477600-147482000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:147478400-147482600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:147478400-147487600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:147478400-147487600	Weak transcription	HMEC	breast
9	chr6:147478400-147487600	Weak transcription	NHLF	lung
10	chr6:147478800-147482400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:147478800-147482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:147478800-147483200	Weak transcription	Osteobl	bone
13	chr6:147479800-147481000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:147480000-147480800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:147480000-147481400	Flanking Active TSS	K562	blood
16	chr6:147480200-147481000	Weak transcription	Primary T cells from cord blood	blood
17	chr6:147480200-147481400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:147480200-147486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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