Variant report

Variant	rs10951648
Chromosome Location	chr7:41287859-41287860
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	chr7:41285026..41287975-chr7:41289569..41291440,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10214988	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10214990	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10215332	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10215556	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215670	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10225564	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10225707	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10230756	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10233411	0.81[EUR][1000 genomes]
rs10238779	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10242681	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10246308	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10258437	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10281338	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951647	0.83[EUR][1000 genomes]
rs11505532	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11505535	0.84[ASN][1000 genomes]
rs11760865	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765437	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11766101	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972895	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11976671	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12670349	0.81[CEU][hapmap]
rs12674340	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12701869	0.81[EUR][1000 genomes]
rs12701873	0.82[ASN][1000 genomes]
rs12701875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12701876	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12701877	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12701879	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12701880	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12701882	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13222193	0.81[CEU][hapmap]
rs13222281	0.81[CEU][hapmap]
rs13230373	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13234888	0.81[CEU][hapmap]
rs13238496	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13244372	0.81[ASN][1000 genomes]
rs1557929	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1557931	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051869	0.81[ASN][1000 genomes]
rs2051871	0.81[ASN][1000 genomes]
rs2158558	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2189841	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34965184	0.81[ASN][1000 genomes]
rs35796717	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6944817	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6948410	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955027	0.81[ASN][1000 genomes]
rs6955172	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974692	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756439	0.86[EUR][1000 genomes]
rs7796964	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs985821	0.80[AMR][1000 genomes];0.99[EUR][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	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534465	chr7:41224437-41443498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10951648	C7orf10	cis	parietal	SCAN
rs10951648	NPC1L1	cis	parietal	SCAN
rs10951648	MYL7	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41265000-41296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:41283600-41288000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:41285400-41288200	Enhancers	HMEC	breast
4	chr7:41285600-41288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:41286200-41288400	Enhancers	Hela-S3	cervix
6	chr7:41287200-41288000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:41287200-41288000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:41287200-41288000	Enhancers	HUVEC	blood vessel
9	chr7:41287200-41288000	Enhancers	NH-A	brain
10	chr7:41287200-41288000	Enhancers	NHEK	skin
11	chr7:41287600-41288000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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