Variant report

Variant	rs9497716
Chromosome Location	chr6:147484238-147484239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147482480..147485033-chr6:147490242..147491745,2	MCF-7	breast:
2	chr6:147477631..147490692-chr6:147521132..147530003,24	K562	blood:
3	chr6:147475725..147486468-chr6:147521132..147528058,22	K562	blood:
4	chr6:147483460..147485748-chr6:147538509..147541125,2	K562	blood:
5	chr6:147211953..147214210-chr6:147481502..147484872,3	K562	blood:
6	chr6:147206177..147208553-chr6:147483473..147485065,2	K562	blood:
7	chr6:147467323..147469647-chr6:147482917..147485817,3	K562	blood:
8	chr6:147212648..147214210-chr6:147483163..147484872,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11965185	1.00[AMR][1000 genomes]
rs56700189	1.00[AMR][1000 genomes]
rs56989474	1.00[AMR][1000 genomes]
rs57233238	1.00[AMR][1000 genomes]
rs57284678	1.00[AMR][1000 genomes]
rs57356769	1.00[AMR][1000 genomes]
rs57807457	1.00[AMR][1000 genomes]
rs58453975	1.00[AMR][1000 genomes]
rs58756001	1.00[AMR][1000 genomes]
rs60426717	1.00[AMR][1000 genomes]
rs61377514	1.00[AMR][1000 genomes]
rs9497717	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497718	0.82[AFR][1000 genomes];1.00[AMR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147478400-147487600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:147478400-147487600	Weak transcription	HMEC	breast
3	chr6:147478400-147487600	Weak transcription	NHLF	lung
4	chr6:147480200-147486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:147483000-147491000	Weak transcription	NH-A	brain
6	chr6:147483400-147485400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:147483400-147486200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:147483400-147487600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:147483800-147487200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:147483800-147487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:147483800-147487600	Weak transcription	Osteobl	bone
12	chr6:147483800-147487800	Weak transcription	NHEK	skin
13	chr6:147484000-147485200	ZNF genes & repeats	K562	blood
14	chr6:147484200-147486600	Weak transcription	HUVEC	blood vessel
15	chr6:147484200-147487600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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