Variant report

Variant	rs6946781
Chromosome Location	chr7:116907743-116907744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116894301-116914960	GM12878	blood:
2	7:116754962-116765597..7:116894301-116914960	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10226864	0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10235236	1.00[ASW][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10245615	0.92[CHB][hapmap]
rs10254103	0.80[EUR][1000 genomes]
rs10255896	0.86[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10256129	1.00[ASW][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.99[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10271623	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10280067	1.00[ASW][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10953839	0.84[AMR][1000 genomes]
rs11981089	0.86[CHB][hapmap]
rs1468655	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1860698	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34911130	0.97[ASN][1000 genomes]
rs6466605	0.84[ASW][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap]
rs6466606	0.86[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6466607	0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6942558	0.86[CHB][hapmap]
rs6958283	1.00[ASW][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6965467	0.89[GIH][hapmap];0.89[TSI][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs6974937	0.86[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6975501	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6979800	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718738	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs739693	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7776963	0.84[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7802930	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6946781	MET	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116903400-116909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:116903600-116909000	Weak transcription	HMEC	breast
3	chr7:116904000-116909200	Weak transcription	Hela-S3	cervix
4	chr7:116904000-116909200	Weak transcription	NHEK	skin
5	chr7:116904200-116909200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:116904200-116909200	Weak transcription	HUVEC	blood vessel
7	chr7:116904400-116909200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:116904800-116909200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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