Variant report

Variant	rs7460251
Chromosome Location	chr8:87517988-87517989
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	chr8:87502703..87505600-chr8:87516765..87518527,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10088389	0.85[AMR][1000 genomes]
rs10088739	0.85[CEU][hapmap]
rs10092164	0.83[AMR][1000 genomes]
rs10093238	0.85[CEU][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs10093379	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10095129	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10096168	1.00[CEU][hapmap]
rs10096443	0.85[CEU][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs10103691	0.82[JPT][hapmap]
rs10956800	1.00[CEU][hapmap]
rs10956853	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11782512	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12543856	1.00[CEU][hapmap]
rs12543887	0.81[AMR][1000 genomes]
rs12544731	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs13251647	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17608967	0.85[CEU][hapmap]
rs1946940	0.81[CEU][hapmap]
rs3213911	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34895735	0.81[AMR][1000 genomes]
rs3883910	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3903247	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961190	1.00[CEU][hapmap]
rs4961194	0.92[CEU][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs56102132	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56122533	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56268009	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56321721	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56365416	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57326273	0.84[AMR][1000 genomes]
rs62510798	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62510806	0.85[EUR][1000 genomes]
rs62510845	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471345	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6471349	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6471351	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6471352	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6471354	0.83[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6981299	0.85[AMR][1000 genomes]
rs6988601	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994005	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996052	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7006017	0.85[CEU][hapmap];0.88[TSI][hapmap]
rs7015490	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap]
rs7017719	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap]
rs7460286	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap]
rs7460439	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7461624	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7465350	0.96[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820697	0.92[CEU][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs7822494	0.85[EUR][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	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
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv971681	chr8:87516010-87519129	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7460251	FAM82B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
2	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
3	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:87498400-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:87506600-87520000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:87508000-87520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:87508200-87520000	Weak transcription	Stomach Mucosa	stomach
8	chr8:87509200-87519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:87509400-87519400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:87511000-87520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:87511800-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:87512000-87519000	Strong transcription	Primary B cells from cord blood	blood
13	chr8:87513000-87519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:87513200-87519000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:87513200-87519000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:87513400-87520000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:87513800-87519200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:87514400-87519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:87514400-87519000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr8:87514400-87519200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:87514600-87518800	Strong transcription	Fetal Lung	lung
22	chr8:87514600-87519000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:87514600-87519000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:87514600-87519200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:87514600-87519400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:87514600-87520200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:87514800-87519200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:87515200-87518600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:87515200-87519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:87515400-87519000	Strong transcription	Primary T cells from cord blood	blood
31	chr8:87515400-87519000	Strong transcription	HSMM	muscle
32	chr8:87515400-87519000	Strong transcription	NHEK	skin
33	chr8:87515600-87518800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:87515600-87518800	Strong transcription	GM12878-XiMat	blood
35	chr8:87515600-87519000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr8:87515600-87519000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:87515600-87519000	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:87515600-87519000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:87515600-87519000	Strong transcription	Dnd41	blood
40	chr8:87515600-87519200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:87515600-87519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:87515600-87519200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:87515600-87519200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:87515600-87519200	Strong transcription	Fetal Thymus	thymus
45	chr8:87515600-87519200	Strong transcription	HMEC	breast
46	chr8:87515800-87518600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:87515800-87518600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:87515800-87518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:87515800-87518600	Strong transcription	Fetal Intestine Large	intestine
50	chr8:87515800-87518800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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