Variant report

Variant	rs7092129
Chromosome Location	chr10:96358525-96358526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10786168	1.00[JPT][hapmap]
rs10786169	0.83[JPT][hapmap]
rs10882460	1.00[JPT][hapmap]
rs10882463	1.00[JPT][hapmap]
rs10882474	1.00[JPT][hapmap]
rs10882475	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882477	1.00[JPT][hapmap]
rs11187939	1.00[JPT][hapmap]
rs11187940	0.95[CEU][hapmap];0.92[JPT][hapmap]
rs11187944	1.00[JPT][hapmap]
rs11187952	1.00[JPT][hapmap]
rs11187960	0.96[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs11188009	1.00[JPT][hapmap]
rs11188012	0.83[JPT][hapmap]
rs11188019	0.83[JPT][hapmap]
rs11188020	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11188036	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11638	0.83[JPT][hapmap]
rs12221475	1.00[JPT][hapmap]
rs1326839	0.94[JPT][hapmap]
rs1334595	0.93[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap]
rs1409655	0.83[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1931757	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs1977288	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1977291	0.96[CEU][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1980741	0.83[JPT][hapmap]
rs2031323	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2281791	1.00[JPT][hapmap]
rs2860840	0.83[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes]
rs3740358	1.00[JPT][hapmap]
rs3781262	1.00[JPT][hapmap]
rs4351744	0.83[JPT][hapmap]
rs4414147	0.87[AMR][1000 genomes]
rs4564258	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4600139	0.89[AMR][1000 genomes]
rs480032	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4918402	1.00[JPT][hapmap]
rs517784	1.00[JPT][hapmap]
rs556055	1.00[JPT][hapmap]
rs6583942	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6583947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs692872	1.00[JPT][hapmap]
rs701885	1.00[JPT][hapmap]
rs7075182	0.87[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7078478	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7078811	0.83[JPT][hapmap]
rs7083898	0.83[JPT][hapmap]
rs7087798	0.93[ASW][hapmap];0.96[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7096007	0.83[EUR][1000 genomes]
rs7906843	0.82[JPT][hapmap]
rs7913343	1.00[JPT][hapmap]
rs7921721	0.83[JPT][hapmap]
rs7922956	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9645542	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv517681	chr10:96343228-96387079	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv975786	chr10:96352319-96359053	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7092129	ANKRD2	cis	cerebellum	SCAN
rs7092129	HELLS	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96306400-96365600	Weak transcription	Esophagus	oesophagus
2	chr10:96306400-96370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:96306400-96370600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:96306400-96371000	Weak transcription	Ovary	ovary
5	chr10:96306600-96379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:96306800-96373000	Weak transcription	Primary T cells from cord blood	blood
7	chr10:96307000-96375000	Weak transcription	Osteobl	bone
8	chr10:96307200-96371200	Weak transcription	Fetal Brain Male	brain
9	chr10:96307600-96373200	Weak transcription	Brain Germinal Matrix	brain
10	chr10:96307800-96373000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:96308000-96373200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:96309600-96372800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:96309600-96377000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:96312800-96372200	Strong transcription	Dnd41	blood
15	chr10:96314200-96373400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:96315000-96369200	Weak transcription	Fetal Kidney	kidney
17	chr10:96316000-96371400	Weak transcription	Fetal Brain Female	brain
18	chr10:96316000-96374000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:96316200-96373000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:96317000-96372600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:96324000-96376600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:96324200-96365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:96325800-96376000	Weak transcription	NHLF	lung
24	chr10:96331000-96377400	Weak transcription	Placenta	Placenta
25	chr10:96331200-96361800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:96332400-96359200	Weak transcription	Left Ventricle	heart
27	chr10:96338800-96372000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:96345400-96360000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:96345400-96360400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:96345400-96371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:96345600-96372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:96346400-96360000	Strong transcription	Fetal Thymus	thymus
33	chr10:96346600-96360800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr10:96346600-96372600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr10:96346800-96358800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:96346800-96359400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:96347200-96368000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:96347800-96362000	Strong transcription	Hela-S3	cervix
39	chr10:96348000-96359200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr10:96348000-96369600	Weak transcription	Fetal Heart	heart
41	chr10:96348200-96364800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:96348400-96361800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr10:96348600-96360800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:96348600-96364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:96348600-96371400	Weak transcription	NHEK	skin
46	chr10:96348800-96359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:96349200-96371000	Weak transcription	Primary B cells from cord blood	blood
48	chr10:96349800-96361600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:96350000-96362000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:96350200-96364200	Weak transcription	Spleen	Spleen

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