Variant report

Variant	rs7113385
Chromosome Location	chr11:5387430-5387431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5384124..5385767-chr11:5387283..5389565,2	K562	blood:
2	chr11:5385575..5387754-chr11:5392449..5394884,2	K562	blood:
3	chr11:5151510..5153269-chr11:5386500..5388516,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10500635	1.00[JPT][hapmap]
rs10500636	1.00[JPT][hapmap]
rs10500639	0.92[CEU][hapmap]
rs11036919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11036928	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11036984	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037061	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037070	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037444	0.85[CEU][hapmap]
rs11826587	1.00[JPT][hapmap]
rs12279751	0.92[CEU][hapmap]
rs12281453	0.89[CEU][hapmap]
rs12289659	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291806	0.81[CEU][hapmap]
rs12292741	0.81[AMR][1000 genomes]
rs12802242	1.00[JPT][hapmap]
rs12804113	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808928	1.00[JPT][hapmap]
rs16930124	1.00[JPT][hapmap]
rs16931034	0.85[CEU][hapmap]
rs16931041	0.85[CEU][hapmap]
rs17359438	1.00[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];0.93[MEX][hapmap]
rs2467233	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647597	1.00[CEU][hapmap]
rs2736552	1.00[JPT][hapmap]
rs4243954	1.00[JPT][hapmap]
rs4243956	1.00[JPT][hapmap]
rs4243958	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243959	1.00[JPT][hapmap]
rs4243960	0.85[CEU][hapmap]
rs4296065	1.00[JPT][hapmap]
rs4300412	1.00[JPT][hapmap]
rs4306312	1.00[JPT][hapmap]
rs4338558	1.00[JPT][hapmap]
rs4347419	1.00[JPT][hapmap]
rs4369438	1.00[JPT][hapmap]
rs4373970	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439540	1.00[JPT][hapmap]
rs4462380	1.00[JPT][hapmap]
rs4494330	1.00[JPT][hapmap]
rs4910564	0.81[CEU][hapmap]
rs4910752	1.00[JPT][hapmap]
rs4910755	1.00[JPT][hapmap]
rs4910756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910761	1.00[JPT][hapmap]
rs4910775	1.00[JPT][hapmap]
rs4910776	1.00[JPT][hapmap]
rs4910780	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs5006882	1.00[JPT][hapmap]
rs5006883	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs5006884	1.00[JPT][hapmap]
rs5006885	1.00[JPT][hapmap]
rs5006886	1.00[JPT][hapmap]
rs5006889	1.00[JPT][hapmap]
rs5024042	1.00[JPT][hapmap]
rs7112862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113565	1.00[JPT][hapmap]
rs7113817	1.00[JPT][hapmap]
rs7117560	1.00[JPT][hapmap]
rs7131367	1.00[JPT][hapmap]
rs71488531	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs71488544	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488553	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7483122	1.00[JPT][hapmap]
rs7929412	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948662	1.00[JPT][hapmap]
rs9665744	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap]
rs9666787	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv983147	chr11:5376861-5392760	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv2762893	chr11:5384429-5389120	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7113385	C11orf21	cis	cerebellum	SCAN
rs7113385	KRTAP5-2	cis	cerebellum	SCAN
rs7113385	OR51A7	cis	cerebellum	SCAN
rs7113385	RORC	trans	cerebellum	SCAN
rs7113385	OR51B2	cis	cerebellum	SCAN
rs7113385	LSP1	cis	cerebellum	SCAN
rs7113385	FAM99A	cis	parietal	SCAN
rs7113385	RIC3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5383200-5388400	Genic enhancers	K562	blood
2	chr11:5384200-5391200	Enhancers	NHLF	lung
3	chr11:5384200-5391200	Enhancers	Osteobl	bone
4	chr11:5384800-5389600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:5384800-5389600	Enhancers	HUVEC	blood vessel
6	chr11:5385000-5389000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:5385000-5389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:5385000-5391400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:5385600-5388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:5385800-5388000	Weak transcription	Hela-S3	cervix
11	chr11:5386000-5391200	Enhancers	NHDF-Ad	bronchial
12	chr11:5386800-5388000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:5386800-5388000	Weak transcription	HSMMtube	muscle
14	chr11:5387200-5388200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:5387200-5389600	Enhancers	NH-A	brain
16	chr11:5387400-5388200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:5387400-5388200	Weak transcription	HSMM	muscle

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