Variant report

Variant	rs10956803
Chromosome Location	chr8:87363074-87363075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87361399..87363521-chr8:87414046..87416570,2	K562	blood:
2	chr8:87135891..87139399-chr8:87360674..87363160,4	MCF-7	breast:
3	chr8:87361670..87363931-chr8:87364604..87369462,4	K562	blood:
4	chr8:87362200..87363935-chr8:87364604..87368917,3	K562	blood:
5	chr8:87361970..87363918-chr8:87368316..87370352,3	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10089781	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10093379	0.82[EUR][1000 genomes]
rs10095129	1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10095537	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10096168	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107072	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956800	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956802	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775728	0.82[ASN][1000 genomes]
rs11782512	0.83[EUR][1000 genomes]
rs11787036	0.82[ASN][1000 genomes]
rs11787318	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11997234	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12543856	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12543887	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12544731	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13251647	1.00[YRI][hapmap]
rs17608598	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17681618	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34895735	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4285463	0.84[ASN][1000 genomes]
rs4581032	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4961187	0.85[ASN][1000 genomes]
rs4961190	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5024450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55727343	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55807259	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56039487	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56102132	0.84[EUR][1000 genomes]
rs56122638	0.84[ASN][1000 genomes]
rs56268675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56395805	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57326273	0.88[EUR][1000 genomes]
rs57644875	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62509414	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62509419	0.86[ASN][1000 genomes]
rs62509421	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62510798	0.84[EUR][1000 genomes]
rs6471273	1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs6471279	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471280	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6471281	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6471345	0.82[EUR][1000 genomes]
rs6988601	0.81[EUR][1000 genomes]
rs6996052	1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs7015490	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7017719	1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71503461	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7460028	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7460286	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7461767	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7462727	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7819454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7824469	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7825405	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7830128	0.86[ASN][1000 genomes]
rs7835743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7838007	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9283961	0.82[ASN][1000 genomes]
rs9642913	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956803	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:87355800-87363800	Weak transcription	Esophagus	oesophagus
3	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
5	chr8:87357000-87366400	Weak transcription	Fetal Lung	lung
6	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:87357200-87365000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:87357200-87366000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:87357200-87368800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:87357200-87369600	Weak transcription	HSMM	muscle
11	chr8:87357400-87364400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:87357400-87364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:87357400-87364600	Weak transcription	Lung	lung
14	chr8:87357400-87367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:87357400-87368000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:87357600-87364200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:87357600-87364800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:87357600-87364800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:87357600-87364800	Weak transcription	K562	blood
22	chr8:87357600-87366000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:87357600-87368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:87357600-87368800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
26	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:87357800-87367400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:87357800-87368600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
31	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
33	chr8:87358000-87363400	Weak transcription	Left Ventricle	heart
34	chr8:87358000-87363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:87358000-87363800	Weak transcription	Ovary	ovary
36	chr8:87358000-87366600	Weak transcription	Colonic Mucosa	Colon
37	chr8:87358000-87369000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:87358200-87363600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:87358400-87364200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:87358400-87364800	Weak transcription	A549	lung
41	chr8:87358400-87367400	Weak transcription	Hela-S3	cervix
42	chr8:87358600-87365000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:87358800-87366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:87359000-87383600	Weak transcription	Dnd41	blood
45	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:87360600-87369800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:87360800-87364000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:87361200-87364200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:87361600-87363800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:87361600-87364200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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