Variant report

Variant	rs17744964
Chromosome Location	chr11:101588673-101588674
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	chr11:101585641..101587293-chr11:101587607..101589983,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10791502	1.00[CHB][hapmap]
rs11600201	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11600247	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601702	1.00[ASN][1000 genomes]
rs11603508	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11603928	1.00[ASN][1000 genomes]
rs11603969	1.00[ASN][1000 genomes]
rs11605037	1.00[ASN][1000 genomes]
rs11605091	1.00[ASN][1000 genomes]
rs11606855	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11607633	1.00[ASN][1000 genomes]
rs12796679	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17675774	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17676029	1.00[ASN][1000 genomes]
rs17743562	1.00[ASN][1000 genomes]
rs17743713	1.00[ASN][1000 genomes]
rs17745205	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938838	1.00[ASN][1000 genomes]
rs1938839	1.00[ASN][1000 genomes]
rs1938851	1.00[ASN][1000 genomes]
rs1939431	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939446	1.00[ASN][1000 genomes]
rs4254048	1.00[CHB][hapmap]
rs4457714	1.00[CHB][hapmap]
rs4469857	1.00[CHB][hapmap]
rs4553341	1.00[ASN][1000 genomes]
rs4597037	1.00[ASN][1000 genomes]
rs4754765	1.00[ASN][1000 genomes]
rs4754768	1.00[ASN][1000 genomes]
rs4754769	1.00[ASN][1000 genomes]
rs56829971	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60385781	1.00[ASN][1000 genomes]
rs61915443	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61915444	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915445	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61916053	1.00[ASN][1000 genomes]
rs61916054	1.00[ASN][1000 genomes]
rs61916055	1.00[ASN][1000 genomes]
rs61916056	1.00[ASN][1000 genomes]
rs61917405	1.00[ASN][1000 genomes]
rs61918162	1.00[ASN][1000 genomes]
rs61918163	1.00[ASN][1000 genomes]
rs61918373	1.00[ASN][1000 genomes]
rs61918375	1.00[ASN][1000 genomes]
rs61918376	1.00[ASN][1000 genomes]
rs61918413	1.00[ASN][1000 genomes]
rs6590880	1.00[CHB][hapmap]
rs6590881	1.00[CHB][hapmap]
rs6590882	1.00[CHB][hapmap]
rs6590886	1.00[ASN][1000 genomes]
rs7112255	1.00[CHB][hapmap]
rs7115426	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7116268	1.00[ASN][1000 genomes]
rs7116748	1.00[ASN][1000 genomes]
rs7131328	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72976319	1.00[ASN][1000 genomes]
rs7925662	1.00[CHB][hapmap]
rs7931676	1.00[CHB][hapmap]
rs7943559	1.00[ASN][1000 genomes]
rs7949939	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950828	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv468853	chr11:101539408-101616696	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv556139	chr11:101539408-101616696	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv469987	chr11:101547723-101610380	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv74	chr11:101560540-101608664	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv898332	chr11:101562004-101732566	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1044223	chr11:101586478-101626839	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17744964	TRPC6	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101586600-101589200	Weak transcription	A549	lung
2	chr11:101588200-101590000	Enhancers	NHEK	skin
3	chr11:101588400-101589400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:101588400-101589800	Enhancers	HMEC	breast
5	chr11:101588400-101590200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:101588600-101588800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:101588600-101589000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:101588600-101590000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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