Variant report

Variant	rs10500185
Chromosome Location	chr7:147116083-147116084
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10500175	1.00[CHB][hapmap]
rs10500187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10952677	0.81[MEX][hapmap]
rs11764538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770339	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771144	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap]
rs11773547	1.00[CHB][hapmap]
rs11773683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703909	0.84[CEU][hapmap]
rs12703911	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12703916	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12703921	1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703922	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs13221396	1.00[CEU][hapmap]
rs13221977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13222223	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224673	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs13227291	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs13229651	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs13231364	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs13231991	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233234	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234094	1.00[CHB][hapmap]
rs13234757	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs13235407	1.00[CHB][hapmap]
rs13235593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238470	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs13241063	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242678	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243643	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13246604	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246788	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs13247132	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247289	0.82[CEU][hapmap]
rs1357896	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs1404711	1.00[CHB][hapmap]
rs1406288	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528520	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17223460	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17224658	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs17412444	0.81[MEX][hapmap]
rs17498276	1.00[CHB][hapmap]
rs1842273	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842274	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871492	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]
rs2046052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2373031	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2373129	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs34163397	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34959888	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34993596	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288063	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35696201	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35756055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894873	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103173	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5028055	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs6951143	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs6957443	1.00[ASN][1000 genomes]
rs6979164	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs71530784	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs747138	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7781464	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810103	1.00[CHB][hapmap]
rs872714	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs957484	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs997223	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv931005	chr7:146730472-147381257	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv608954	chr7:147104887-147145576	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1024540	chr7:147105149-147138125	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10500185	OR6W1P	cis	parietal	SCAN
rs10500185	ATP6V0E2	cis	cerebellum	SCAN
rs10500185	KCNH2	cis	parietal	SCAN
rs10500185	GIMAP6	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147095400-147120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147111600-147116200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:147113400-147116200	Weak transcription	Osteobl	bone
4	chr7:147113600-147116200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:147115600-147116400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:147116000-147116400	Enhancers	HSMMtube	muscle

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