Variant report

Variant	rs10195867
Chromosome Location	chr2:110299264-110299265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110295767..110297372-chr2:110298255..110300414,2	K562	blood:
2	chr2:110295767..110297906-chr2:110298255..110300414,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]
rs10496432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[ASN][1000 genomes]
rs28464093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.88[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap]
rs34269507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	1.00[ASN][1000 genomes]
rs34517320	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953853	1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap]
rs55794045	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.88[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap]
rs6709945	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751785	0.88[CHD][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];0.84[ASN][1000 genomes]
rs72824772	0.95[EUR][1000 genomes]
rs72824788	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.91[EUR][1000 genomes]
rs9752531	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10195867	ACOXL	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:110293200-110302600	Weak transcription	Fetal Lung	lung
4	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:110293400-110301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:110293400-110303200	Weak transcription	NHLF	lung
7	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
9	chr2:110293400-110309600	Weak transcription	Lung	lung
10	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
11	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
12	chr2:110293400-110352200	Weak transcription	Gastric	stomach
13	chr2:110293600-110302600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:110293600-110302600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:110293600-110309400	Weak transcription	Liver	Liver
16	chr2:110295400-110302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:110295400-110302800	Weak transcription	HMEC	breast
18	chr2:110295600-110299600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:110295800-110302600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:110296000-110299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:110296000-110302000	Weak transcription	NHEK	skin
22	chr2:110296000-110302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:110296000-110302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:110296000-110302600	Weak transcription	Fetal Stomach	stomach
25	chr2:110296000-110302800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:110296000-110312200	Weak transcription	Stomach Mucosa	stomach
27	chr2:110296200-110302600	Weak transcription	Adipose Nuclei	Adipose
28	chr2:110296200-110302600	Weak transcription	HepG2	liver
29	chr2:110296400-110302800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:110296400-110309400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:110296400-110309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:110296400-110309400	Weak transcription	HSMMtube	muscle
33	chr2:110296400-110313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:110296600-110302400	Weak transcription	Fetal Kidney	kidney
35	chr2:110296800-110302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:110296800-110302600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:110296800-110303000	Weak transcription	HUVEC	blood vessel
38	chr2:110296800-110309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:110297200-110299400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:110297200-110302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:110297400-110300000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:110297400-110304000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
44	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
45	chr2:110298000-110302600	Weak transcription	A549	lung
46	chr2:110298000-110303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:110298000-110309200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:110298000-110310200	Weak transcription	Hela-S3	cervix
49	chr2:110298200-110302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:110298400-110302600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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