Variant report

Variant	rs17608967
Chromosome Location	chr8:87426009-87426010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:87425465-87426013	A549	lung:	n/a	n/a
2	MAFK	chr8:87426001-87426132	HepG2	liver:	n/a	n/a
3	BACH1	chr8:87425818-87426013	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:87425803-87426176	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr8:87425961-87426130	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87423456..87426369-chr8:87480182..87483127,2	K562	blood:

Variant related genes	Relation type
WWP1	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10088389	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10088739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10092164	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10093238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10093379	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095129	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10095498	0.82[JPT][hapmap]
rs10095537	0.80[ASN][1000 genomes]
rs10096168	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10096443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10103691	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10107072	0.80[ASN][1000 genomes]
rs10956800	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10956853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1142528	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs11775728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11781016	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11782512	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11787036	0.86[ASN][1000 genomes]
rs11787318	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12543856	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543887	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544731	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs12546331	0.88[CEU][hapmap]
rs13042	0.82[JPT][hapmap]
rs13249753	0.82[JPT][hapmap]
rs13251647	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17608598	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17681618	0.84[ASN][1000 genomes]
rs1946940	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs3213911	0.90[CEU][hapmap];0.81[JPT][hapmap]
rs34895735	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3883910	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4285463	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4484676	0.86[JPT][hapmap]
rs4581032	0.81[ASN][1000 genomes]
rs4587306	0.82[JPT][hapmap]
rs4961189	0.90[ASN][1000 genomes]
rs4961190	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4961193	0.82[JPT][hapmap]
rs4961194	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4961196	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs5024450	0.85[ASN][1000 genomes]
rs5025329	0.86[JPT][hapmap]
rs55727343	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55807259	0.85[ASN][1000 genomes]
rs56096624	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56102132	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56122638	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56268675	0.89[ASN][1000 genomes]
rs56395805	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57326273	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57644875	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62509414	0.89[ASN][1000 genomes]
rs62509419	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62509421	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62510798	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6415565	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6471273	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6471280	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6471281	0.80[ASN][1000 genomes]
rs6471296	0.82[JPT][hapmap]
rs6471309	0.82[JPT][hapmap]
rs6471345	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471349	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471351	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6471360	0.82[JPT][hapmap]
rs6981299	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983925	0.82[JPT][hapmap]
rs6988601	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6994005	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs6996052	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6999654	0.85[JPT][hapmap]
rs7003059	0.82[JPT][hapmap]
rs7005799	0.80[EUR][1000 genomes]
rs7006017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006629	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7015490	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7017716	0.82[JPT][hapmap]
rs7017719	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7459811	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7459897	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7460251	0.85[CEU][hapmap]
rs7460286	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7460439	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7461624	0.90[CEU][hapmap];0.85[JPT][hapmap]
rs7462727	0.80[ASN][1000 genomes]
rs7465350	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs7465511	0.82[JPT][hapmap]
rs7819454	0.83[ASN][1000 genomes]
rs7820697	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7822494	0.81[ASN][1000 genomes]
rs7823154	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7824469	0.80[ASN][1000 genomes]
rs7830128	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7835743	0.83[AMR][1000 genomes]
rs7837569	0.82[JPT][hapmap]
rs9642913	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[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	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17608967	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
5	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
6	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
7	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
8	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
9	chr8:87403000-87429000	Weak transcription	Gastric	stomach
10	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
11	chr8:87404200-87426600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:87404400-87428400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:87404400-87429000	Weak transcription	Aorta	Aorta
15	chr8:87404400-87429000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:87404600-87428000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:87405200-87426600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:87405400-87443600	Weak transcription	NHLF	lung
19	chr8:87405800-87429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:87406400-87428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:87406800-87437400	Weak transcription	HSMM	muscle
23	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
25	chr8:87411200-87429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:87411400-87429600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:87412800-87427600	Strong transcription	Dnd41	blood
28	chr8:87414400-87431400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr8:87414600-87428400	Weak transcription	Psoas Muscle	Psoas
30	chr8:87414800-87430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:87415200-87426600	Weak transcription	HUVEC	blood vessel
32	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
33	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:87416800-87426200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:87417400-87428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:87419200-87426600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:87419400-87430600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:87421200-87426600	Strong transcription	Placenta	Placenta
41	chr8:87421800-87428600	Weak transcription	Small Intestine	intestine
42	chr8:87422200-87427000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:87422200-87432800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:87422800-87426600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:87423000-87426200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:87423000-87432600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:87423200-87427400	Strong transcription	Primary B cells from cord blood	blood
50	chr8:87423200-87427600	Strong transcription	Primary T cells from cord blood	blood

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