Variant report

Variant	rs6946747
Chromosome Location	chr7:78372501-78372502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10228359	0.82[EUR][1000 genomes]
rs10228963	0.82[EUR][1000 genomes]
rs10229438	0.96[EUR][1000 genomes]
rs10229458	0.96[EUR][1000 genomes]
rs10230190	0.96[EUR][1000 genomes]
rs10230478	0.96[EUR][1000 genomes]
rs10230501	0.96[EUR][1000 genomes]
rs10231465	0.82[EUR][1000 genomes]
rs10233033	0.96[EUR][1000 genomes]
rs10243772	0.96[EUR][1000 genomes]
rs10243883	0.96[EUR][1000 genomes]
rs10256389	0.92[EUR][1000 genomes]
rs10272085	0.82[EUR][1000 genomes]
rs10273632	0.96[EUR][1000 genomes]
rs10953681	0.96[EUR][1000 genomes]
rs10953687	0.96[EUR][1000 genomes]
rs11487098	0.93[AFR][1000 genomes]
rs11760430	0.85[EUR][1000 genomes]
rs11763541	0.85[EUR][1000 genomes]
rs11768142	0.92[EUR][1000 genomes]
rs11768372	0.96[EUR][1000 genomes]
rs11768397	0.96[EUR][1000 genomes]
rs11770561	0.85[EUR][1000 genomes]
rs11770565	0.85[EUR][1000 genomes]
rs11772790	0.96[EUR][1000 genomes]
rs11773249	0.98[EUR][1000 genomes]
rs12530747	0.85[EUR][1000 genomes]
rs12530771	0.85[EUR][1000 genomes]
rs12530773	0.94[EUR][1000 genomes]
rs12530792	0.98[EUR][1000 genomes]
rs12531353	0.98[EUR][1000 genomes]
rs12531547	0.85[EUR][1000 genomes]
rs12531558	0.85[EUR][1000 genomes]
rs12533182	0.98[EUR][1000 genomes]
rs12533194	0.85[EUR][1000 genomes]
rs12533269	0.85[EUR][1000 genomes]
rs12533873	0.85[EUR][1000 genomes]
rs12534669	0.96[EUR][1000 genomes]
rs12534800	0.94[EUR][1000 genomes]
rs12535118	0.91[EUR][1000 genomes]
rs12536628	0.92[EUR][1000 genomes]
rs12536952	0.85[EUR][1000 genomes]
rs12536959	0.85[EUR][1000 genomes]
rs12537842	0.98[EUR][1000 genomes]
rs12538687	0.85[EUR][1000 genomes]
rs12538706	0.85[EUR][1000 genomes]
rs12539657	0.98[EUR][1000 genomes]
rs12540478	0.85[EUR][1000 genomes]
rs12540572	0.98[EUR][1000 genomes]
rs12540597	0.85[EUR][1000 genomes]
rs13240011	0.92[EUR][1000 genomes]
rs1496765	0.82[EUR][1000 genomes]
rs28502814	0.91[EUR][1000 genomes]
rs28565439	0.94[EUR][1000 genomes]
rs28650857	0.98[EUR][1000 genomes]
rs35895217	0.92[EUR][1000 genomes]
rs55669940	1.00[EUR][1000 genomes]
rs55827541	1.00[EUR][1000 genomes]
rs55984124	0.92[EUR][1000 genomes]
rs56161537	1.00[EUR][1000 genomes]
rs56165236	0.85[EUR][1000 genomes]
rs56277847	0.92[EUR][1000 genomes]
rs66495951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6953739	0.96[EUR][1000 genomes]
rs727538	0.94[AFR][1000 genomes]
rs73135509	0.96[EUR][1000 genomes]
rs73135518	0.96[EUR][1000 genomes]
rs73135526	0.96[EUR][1000 genomes]
rs73145170	0.83[EUR][1000 genomes]
rs73145178	0.83[EUR][1000 genomes]
rs73145192	0.83[EUR][1000 genomes]
rs73145196	0.83[EUR][1000 genomes]
rs73145199	0.83[EUR][1000 genomes]
rs73147023	0.85[EUR][1000 genomes]
rs73147024	0.83[EUR][1000 genomes]
rs73147031	0.85[EUR][1000 genomes]
rs73147034	0.85[EUR][1000 genomes]
rs73147035	0.85[EUR][1000 genomes]
rs73147039	0.85[EUR][1000 genomes]
rs73147058	0.85[EUR][1000 genomes]
rs73149076	0.85[EUR][1000 genomes]
rs73149082	0.85[EUR][1000 genomes]
rs73149083	0.85[EUR][1000 genomes]
rs73149085	0.85[EUR][1000 genomes]
rs73149086	0.85[EUR][1000 genomes]
rs73149096	0.92[EUR][1000 genomes]
rs73150705	0.92[EUR][1000 genomes]
rs73150708	0.92[EUR][1000 genomes]
rs73150717	0.92[EUR][1000 genomes]
rs73150732	0.92[EUR][1000 genomes]
rs73150760	0.94[EUR][1000 genomes]
rs73150764	0.98[EUR][1000 genomes]
rs73150767	0.98[EUR][1000 genomes]
rs73150783	0.98[EUR][1000 genomes]
rs73150785	0.98[EUR][1000 genomes]
rs73150787	0.98[EUR][1000 genomes]
rs73150791	0.98[EUR][1000 genomes]
rs73150794	0.96[EUR][1000 genomes]
rs73152411	0.98[EUR][1000 genomes]
rs73152421	0.98[EUR][1000 genomes]
rs73152427	0.98[EUR][1000 genomes]
rs73152434	0.98[EUR][1000 genomes]
rs73152443	0.98[EUR][1000 genomes]
rs73152448	1.00[EUR][1000 genomes]
rs73365859	0.98[AFR][1000 genomes]
rs73365861	0.93[AFR][1000 genomes]
rs73365868	0.87[AFR][1000 genomes]
rs9969173	0.98[AFR][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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78363600-78380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78368000-78375600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:78368600-78374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:78371000-78375400	Weak transcription	Fetal Brain Male	brain
5	chr7:78372000-78373000	Enhancers	HMEC	breast
6	chr7:78372000-78373200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:78372000-78373200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:78372200-78373200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:78372400-78372600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:78372400-78375200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:78372400-78375600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:78372400-78376800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:78372400-78391600	Weak transcription	Pancreas	Pancrea
14	chr7:78372400-78395200	Weak transcription	Aorta	Aorta

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