Variant report

Variant	rs7812517
Chromosome Location	chr8:10061303-10061304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10085917	0.81[JPT][hapmap]
rs10097315	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10283047	0.86[ASN][1000 genomes]
rs11249973	0.90[GIH][hapmap]
rs11783143	0.85[JPT][hapmap]
rs11786117	0.81[JPT][hapmap]
rs13257383	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1484648	0.89[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs17151318	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17748464	0.81[CEU][hapmap];0.81[CHD][hapmap]
rs1905630	0.85[JPT][hapmap]
rs1905631	0.90[JPT][hapmap]
rs1905634	0.89[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs28660563	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28701812	0.87[ASN][1000 genomes]
rs4448276	0.84[CHD][hapmap]
rs57515357	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60999585	0.85[AMR][1000 genomes]
rs62491573	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62491574	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6981758	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982806	0.85[CEU][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6994636	0.83[AMR][1000 genomes]
rs6997464	0.84[GIH][hapmap];0.85[JPT][hapmap]
rs7004224	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006628	0.86[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs7011281	0.90[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs7011821	0.90[GIH][hapmap];0.81[JPT][hapmap]
rs7822181	0.83[AMR][1000 genomes]
rs7829478	0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7845503	1.00[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10050000-10068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:10053600-10062400	Weak transcription	Pancreas	Pancrea
3	chr8:10053600-10065000	Weak transcription	Brain Germinal Matrix	brain
4	chr8:10053800-10062400	Weak transcription	Liver	Liver
5	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
6	chr8:10054000-10064200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:10055200-10063800	Weak transcription	Fetal Brain Female	brain
8	chr8:10055400-10074600	Weak transcription	Left Ventricle	heart
9	chr8:10055400-10078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:10055600-10086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:10056600-10064800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:10058400-10062400	Weak transcription	Fetal Brain Male	brain
13	chr8:10058400-10077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:10058400-10086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:10058600-10062400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:10059000-10063600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:10059200-10061400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:10060200-10103000	Weak transcription	Gastric	stomach
19	chr8:10060800-10062400	Weak transcription	Lung	lung
20	chr8:10060800-10064000	Weak transcription	Aorta	Aorta
21	chr8:10061200-10074400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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