Variant report

Variant	rs7070076
Chromosome Location	chr10:93769499-93769500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93764003..93765937-chr10:93769485..93771662,2	MCF-7	breast:
2	chr10:93767539..93770503-chr10:93771684..93774422,2	MCF-7	breast:
3	chr10:93768343..93770359-chr10:93773791..93775387,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10430650	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10509640	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10786024	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10786025	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10786027	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10882019	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs1104012	0.80[JPT][hapmap]
rs11186744	0.84[ASN][1000 genomes]
rs11817194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs12251446	0.88[ASN][1000 genomes]
rs12253972	0.90[ASN][1000 genomes]
rs12254369	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12256118	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs12259055	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12262352	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12263532	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12263639	0.90[ASN][1000 genomes]
rs12267763	0.90[ASN][1000 genomes]
rs12765070	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17107472	0.84[JPT][hapmap]
rs1711850	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs1935864	0.84[JPT][hapmap]
rs2048901	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2252200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2676806	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2676821	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2676823	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2676824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2792019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2792024	0.83[EUR][1000 genomes]
rs4288679	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4509678	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4642987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4933703	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6583801	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs7071659	0.90[ASN][1000 genomes]
rs7076665	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7901434	0.90[ASN][1000 genomes]
rs7904900	0.80[ASN][1000 genomes]
rs7909870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7911552	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7912721	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7915659	0.88[ASN][1000 genomes]
rs7924014	0.89[ASN][1000 genomes]
rs833364	0.84[JPT][hapmap]
rs833365	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs833368	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833380	0.83[GIH][hapmap];0.84[JPT][hapmap]
rs833383	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1042818	chr10:93715483-93855032	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895893	chr10:93747260-93875264	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7070076	CPEB3	cis	cerebellum	SCAN
rs7070076	BTAF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93704800-93807400	Weak transcription	Gastric	stomach
2	chr10:93709000-93771800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:93718400-93774000	Weak transcription	Spleen	Spleen
4	chr10:93723800-93786600	Weak transcription	Colonic Mucosa	Colon
5	chr10:93736200-93784400	Weak transcription	Pancreas	Pancrea
6	chr10:93740400-93770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:93743000-93795000	Weak transcription	Stomach Mucosa	stomach
8	chr10:93743400-93770200	Weak transcription	Brain Angular Gyrus	brain
9	chr10:93743400-93770600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:93743600-93772800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:93743600-93772800	Weak transcription	Lung	lung
12	chr10:93743600-93786400	Weak transcription	Aorta	Aorta
13	chr10:93745000-93797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:93745600-93778800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:93748600-93773400	Weak transcription	Psoas Muscle	Psoas
16	chr10:93749400-93770000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:93749600-93792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:93751800-93770400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:93752000-93777400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:93753600-93782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:93754600-93783800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:93754800-93770000	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:93754800-93773800	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:93754800-93782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:93755800-93784200	Weak transcription	Esophagus	oesophagus
26	chr10:93756000-93772800	Weak transcription	HMEC	breast
27	chr10:93756400-93770000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr10:93757600-93776200	Weak transcription	Fetal Kidney	kidney
29	chr10:93757800-93774000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:93757800-93785000	Weak transcription	Small Intestine	intestine
31	chr10:93761000-93770400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr10:93761200-93771600	Weak transcription	NHEK	skin
33	chr10:93761200-93774000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:93761200-93794600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:93761400-93769800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:93762800-93771000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:93762800-93771400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:93763400-93778600	Weak transcription	Fetal Heart	heart
39	chr10:93764200-93771600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:93764200-93781000	Strong transcription	GM12878-XiMat	blood
41	chr10:93764400-93770800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:93765000-93774000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:93765600-93769600	Strong transcription	Fetal Stomach	stomach
44	chr10:93765600-93770600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:93765600-93771000	Strong transcription	HSMM	muscle
46	chr10:93765600-93771800	Strong transcription	Dnd41	blood
47	chr10:93765600-93792200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:93765800-93771000	Strong transcription	NHDF-Ad	bronchial
49	chr10:93765800-93786400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:93766000-93777400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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