Variant report

Variant	rs10107571
Chromosome Location	chr8:87518985-87518986
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
2	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250569	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000085719	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10086188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089169	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10089253	0.84[ASN][1000 genomes]
rs10090898	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10090963	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092168	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10094332	1.00[ASN][1000 genomes]
rs10095589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097866	0.84[ASN][1000 genomes]
rs10098365	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100182	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100247	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10100368	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10106390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108586	0.84[ASN][1000 genomes]
rs10110096	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10481195	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11774499	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776698	0.84[ASN][1000 genomes]
rs11783382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11984519	0.90[ASN][1000 genomes]
rs11986423	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs11994508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11997927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11998558	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12155981	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs16915375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16915389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17681534	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28397606	0.90[ASN][1000 genomes]
rs28416254	0.90[ASN][1000 genomes]
rs28438974	1.00[ASN][1000 genomes]
rs28514445	1.00[ASN][1000 genomes]
rs28540009	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613262	1.00[ASN][1000 genomes]
rs28687116	1.00[ASN][1000 genomes]
rs2953512	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2953514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2953518	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs2976176	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2976180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3087641	1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[ASN][1000 genomes]
rs4440616	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs57638937	0.82[ASN][1000 genomes]
rs58837061	0.84[ASN][1000 genomes]
rs6651177	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651268	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332431	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980476	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992624	0.90[ASN][1000 genomes]
rs7015772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7018083	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72690416	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690443	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690445	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690447	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690455	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690457	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690474	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688856	0.84[ASN][1000 genomes]
rs73688857	0.88[ASN][1000 genomes]
rs73688858	0.88[ASN][1000 genomes]
rs73688859	0.81[ASN][1000 genomes]
rs73688862	0.88[ASN][1000 genomes]
rs7818436	0.90[ASN][1000 genomes]
rs7823951	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7824873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7833201	0.97[ASN][1000 genomes]
rs7843399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7844014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297913	0.90[ASN][1000 genomes]
rs9650128	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10107571	FAM82B	Cis_1M	lymphoblastoid	RTeQTL
rs10107571	CPNE3	cis	cerebellum	SCAN
rs10107571	FAM82B	cis	cerebellum	SCAN

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	chr8:87514600-87519000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:87514600-87519000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:87514600-87519200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:87514600-87519400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:87514600-87520200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:87514800-87519200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:87515200-87519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:87515400-87519000	Strong transcription	Primary T cells from cord blood	blood
29	chr8:87515400-87519000	Strong transcription	HSMM	muscle
30	chr8:87515400-87519000	Strong transcription	NHEK	skin
31	chr8:87515600-87519000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr8:87515600-87519000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:87515600-87519000	Strong transcription	Fetal Muscle Leg	muscle
34	chr8:87515600-87519000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:87515600-87519000	Strong transcription	Dnd41	blood
36	chr8:87515600-87519200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:87515600-87519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:87515600-87519200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:87515600-87519200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:87515600-87519200	Strong transcription	Fetal Thymus	thymus
41	chr8:87515600-87519200	Strong transcription	HMEC	breast
42	chr8:87515800-87519000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:87515800-87519000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:87515800-87519000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:87515800-87519000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:87515800-87519000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:87515800-87519000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:87515800-87519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:87515800-87519000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:87515800-87519000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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