Variant report

Variant	rs7008772
Chromosome Location	chr8:86173311-86173312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10088120	0.86[JPT][hapmap]
rs10090196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10095352	0.91[JPT][hapmap]
rs1014303	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1021583	0.91[JPT][hapmap]
rs10907474	0.86[JPT][hapmap]
rs11261468	0.95[JPT][hapmap]
rs11261471	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11261472	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11261474	0.91[JPT][hapmap]
rs11985733	0.91[JPT][hapmap]
rs11989660	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12114575	0.85[ASN][1000 genomes]
rs12541445	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12543256	0.91[JPT][hapmap]
rs12544332	0.82[JPT][hapmap]
rs12546106	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12550160	0.91[JPT][hapmap]
rs1303806	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1303807	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13252971	0.91[JPT][hapmap]
rs13259399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13269739	0.86[JPT][hapmap]
rs1390711	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1493302	0.91[JPT][hapmap]
rs1496529	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1496530	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1496531	0.81[JPT][hapmap]
rs1496532	0.81[JPT][hapmap]
rs1532423	0.86[JPT][hapmap]
rs1532424	0.91[JPT][hapmap]
rs1553015	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16913681	0.91[JPT][hapmap]
rs16913721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17042	0.87[JPT][hapmap]
rs17740658	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1845892	0.82[ASN][1000 genomes]
rs1908762	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1995056	0.95[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1995057	0.86[JPT][hapmap]
rs1995058	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2006767	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2055077	0.86[JPT][hapmap]
rs20571	0.91[JPT][hapmap]
rs2072696	0.90[JPT][hapmap]
rs2132589	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2278459	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2279701	0.86[JPT][hapmap]
rs2291786	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2291787	0.86[JPT][hapmap]
rs2403083	0.86[JPT][hapmap]
rs2403085	0.87[JPT][hapmap]
rs2403086	0.86[JPT][hapmap]
rs2403088	0.95[JPT][hapmap]
rs2403104	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2548281	0.86[JPT][hapmap]
rs2645049	0.86[JPT][hapmap]
rs28439950	0.82[ASN][1000 genomes]
rs28677919	0.88[ASN][1000 genomes]
rs2896452	0.95[JPT][hapmap]
rs2896453	0.80[ASN][1000 genomes]
rs2896454	0.86[JPT][hapmap]
rs3087782	0.86[JPT][hapmap]
rs34103685	0.86[JPT][hapmap]
rs35285802	0.81[ASN][1000 genomes]
rs3779899	0.86[JPT][hapmap]
rs3779901	0.91[JPT][hapmap]
rs3808538	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808539	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs3808540	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs4150867	0.87[JPT][hapmap]
rs4150868	0.86[JPT][hapmap]
rs4150869	0.85[JPT][hapmap]
rs4150893	0.86[JPT][hapmap]
rs4150909	0.86[JPT][hapmap]
rs4150942	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4150944	0.86[JPT][hapmap]
rs4150964	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4150974	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4150977	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4566	0.91[JPT][hapmap]
rs4609189	0.91[JPT][hapmap]
rs4739698	0.82[ASN][1000 genomes]
rs4739700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4739702	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4740043	0.91[JPT][hapmap]
rs4740044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4740045	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4740048	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4740049	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62527225	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6605610	0.91[JPT][hapmap]
rs6605611	0.90[JPT][hapmap]
rs6605624	0.95[JPT][hapmap]
rs67573812	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987641	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6990449	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6990452	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6993387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994113	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6997458	0.86[JPT][hapmap]
rs7001359	0.86[JPT][hapmap]
rs7004871	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7011926	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7015758	0.87[JPT][hapmap]
rs7016369	0.86[JPT][hapmap]
rs725605	0.81[JPT][hapmap]
rs7818163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7826589	0.91[JPT][hapmap]
rs7827175	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7829050	0.87[JPT][hapmap]
rs7829144	0.95[JPT][hapmap]
rs7833737	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7835303	0.85[ASN][1000 genomes]
rs7835882	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837275	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839129	0.81[ASN][1000 genomes]
rs7841142	0.95[JPT][hapmap]
rs903895	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs903896	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs903897	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs931505	0.87[JPT][hapmap]
rs9969643	0.91[JPT][hapmap]
rs9987281	0.91[JPT][hapmap]

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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7008772	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs7008772	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs7008772	CA13	cis	Lymphoblastoid	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
3	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
4	chr8:86158400-86179400	Weak transcription	Gastric	stomach
5	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:86158400-86185800	Weak transcription	Lung	lung
7	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
9	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
10	chr8:86158800-86179400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
13	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:86167400-86174400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:86167600-86178800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:86167600-86182600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:86168000-86174400	Weak transcription	GM12878-XiMat	blood
21	chr8:86168000-86187800	Weak transcription	HMEC	breast
22	chr8:86168000-86196200	Weak transcription	NHEK	skin
23	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:86168200-86174000	Weak transcription	Fetal Intestine Small	intestine
25	chr8:86169400-86179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:86169600-86180800	Weak transcription	Fetal Lung	lung
27	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:86170800-86204400	Weak transcription	Ovary	ovary
29	chr8:86171200-86173400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr8:86171400-86177000	Weak transcription	K562	blood
31	chr8:86171400-86179000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:86171600-86174800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:86171600-86176000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:86171600-86177400	Weak transcription	Right Ventricle	heart
35	chr8:86172000-86175800	Weak transcription	Primary B cells from cord blood	blood
36	chr8:86172000-86179400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:86172200-86191400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:86172600-86174600	Strong transcription	Left Ventricle	heart
39	chr8:86173000-86175200	Weak transcription	HepG2	liver
40	chr8:86173000-86178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:86173200-86174000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:86173200-86174000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:86173200-86174000	Weak transcription	Fetal Intestine Large	intestine
44	chr8:86173200-86174200	Weak transcription	Liver	Liver
45	chr8:86173200-86179200	Weak transcription	Duodenum Mucosa	Duodenum

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