Variant report

Variant	rs1908762
Chromosome Location	chr8:86195671-86195672
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	chr8:86192573..86194109-chr8:86194202..86197119,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10088120	0.90[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap]
rs10090196	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10091582	0.91[ASN][1000 genomes]
rs10099251	0.91[ASN][1000 genomes]
rs10100442	0.84[JPT][hapmap];0.88[TSI][hapmap]
rs10106970	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10107686	0.86[ASN][1000 genomes]
rs10110461	0.90[ASN][1000 genomes]
rs10111971	0.91[ASN][1000 genomes]
rs1021583	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11261468	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs11261469	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11261471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11261474	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs12541299	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543256	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12544332	0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12546106	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550160	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679400	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1303806	0.82[JPT][hapmap]
rs13252971	0.81[CHB][hapmap]
rs13259399	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs13259464	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13269739	0.90[JPT][hapmap]
rs1390711	0.82[JPT][hapmap]
rs1496531	0.86[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1496532	0.86[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1496533	0.87[ASN][1000 genomes]
rs1532424	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs1553015	0.82[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1553016	0.91[ASN][1000 genomes]
rs1553017	0.90[ASN][1000 genomes]
rs16913681	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16913721	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17740658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1809819	0.87[ASN][1000 genomes]
rs1845891	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845892	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995056	0.86[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1995057	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs1995058	0.82[JPT][hapmap]
rs2006767	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2132589	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2132590	0.99[ASN][1000 genomes]
rs2278459	0.81[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs2279700	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279701	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291786	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291787	0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2403083	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2403084	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2403085	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2403086	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2403088	0.81[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs2403104	0.82[JPT][hapmap];0.86[TSI][hapmap]
rs28374336	0.91[ASN][1000 genomes]
rs28377260	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28439950	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28564613	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28677919	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2896452	0.81[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs2896454	0.90[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs34103685	0.90[JPT][hapmap];0.96[MEX][hapmap]
rs35558766	0.90[ASN][1000 genomes]
rs3779899	0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs3779901	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808538	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs3808539	0.82[JPT][hapmap]
rs4150867	0.90[JPT][hapmap]
rs4150868	0.90[JPT][hapmap]
rs4150869	0.84[JPT][hapmap]
rs4150893	0.81[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4150897	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4150909	0.83[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs4150942	0.81[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs4150944	0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4150962	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4150964	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4150974	0.87[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150977	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4609189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4617148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739698	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4739700	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.80[ASN][1000 genomes]
rs4740043	0.85[JPT][hapmap]
rs4740044	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4740045	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4740047	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4740049	0.82[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs6605610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6605611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6605613	0.90[ASN][1000 genomes]
rs6605624	0.81[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs6988475	0.82[JPT][hapmap]
rs6990449	0.86[JPT][hapmap]
rs6993316	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993387	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6994113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7001359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004871	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7008772	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7011001	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011926	0.82[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7015758	0.90[JPT][hapmap]
rs7818163	0.83[CHB][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs7821629	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7826511	0.84[ASN][1000 genomes]
rs7827175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7829050	0.90[JPT][hapmap]
rs7829144	0.81[JPT][hapmap];0.91[MEX][hapmap]
rs7829240	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837275	0.81[ASN][1000 genomes]
rs7839129	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841142	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs903895	0.82[JPT][hapmap]
rs903896	0.82[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs903897	0.82[JPT][hapmap]
rs9329908	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1908762	CA13	cis	cerebellum	SCAN
rs1908762	LRRCC1	cis	parietal	SCAN
rs1908762	LRRCC1	cis	Esophagus Mucosa	GTEx
rs1908762	CA13	cis	lymphoblastoid	seeQTL
rs1908762	LRRCC1	cis	cerebellum	SCAN
rs1908762	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs1908762	LRRCC1	cis	Artery Tibial	GTEx
rs1908762	C8orf59	cis	parietal	SCAN
rs1908762	C8orf59	cis	cerebellum	SCAN
rs1908762	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86168000-86196200	Weak transcription	NHEK	skin
2	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:86170800-86204400	Weak transcription	Ovary	ovary
4	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
5	chr8:86178000-86198200	Weak transcription	Aorta	Aorta
6	chr8:86182600-86196000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:86186600-86198800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:86189800-86197800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:86190000-86201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86190200-86203600	Weak transcription	Fetal Stomach	stomach
11	chr8:86190200-86208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:86190200-86209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:86190200-86209600	Weak transcription	Gastric	stomach
14	chr8:86191200-86208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:86191800-86196400	Weak transcription	Fetal Lung	lung
16	chr8:86195400-86197400	Enhancers	Fetal Intestine Small	intestine
17	chr8:86195400-86199200	Weak transcription	Psoas Muscle	Psoas
18	chr8:86195600-86197200	Enhancers	Fetal Intestine Large	intestine

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