Variant report

Variant	rs10496432
Chromosome Location	chr2:110327638-110327639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:110327093-110327873	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MALL-6	chr2:110327081-110327741	NONHSAT073144
2	lnc-MALL-6	chr2:110327081-110327741	l_1917_NR_027063

Variant related genes	Relation type
SEPT10	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10195867	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696274	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3213866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.94[ASW][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34269507	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953848	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953849	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4953853	0.87[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55794045	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.94[ASW][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6709945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6751785	0.94[ASW][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72824772	0.89[EUR][1000 genomes]
rs72824788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.85[EUR][1000 genomes]
rs9752531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9798179	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10496432	ACOXL	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
2	chr2:110293400-110352200	Weak transcription	Gastric	stomach
3	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
5	chr2:110302000-110333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:110302400-110343000	Weak transcription	Psoas Muscle	Psoas
8	chr2:110308400-110363400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:110308600-110358600	Weak transcription	Small Intestine	intestine
10	chr2:110309000-110347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:110309800-110351600	Weak transcription	Pancreas	Pancrea
12	chr2:110310200-110351600	Weak transcription	Fetal Brain Male	brain
13	chr2:110310400-110337800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:110310400-110338400	Weak transcription	Lung	lung
15	chr2:110310400-110342000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:110310400-110351600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:110310400-110351800	Weak transcription	Fetal Brain Female	brain
18	chr2:110310400-110353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:110310400-110363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:110310600-110341400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:110310800-110336800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:110312200-110328400	Weak transcription	Ovary	ovary
23	chr2:110313400-110337000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:110318200-110338000	Weak transcription	NHEK	skin
25	chr2:110318200-110348400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:110318800-110328200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:110319200-110367400	Weak transcription	HSMMtube	muscle
28	chr2:110319400-110358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:110320600-110354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:110321200-110328400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:110321200-110332800	Weak transcription	Fetal Heart	heart
32	chr2:110321800-110328400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:110322400-110328400	Weak transcription	NHLF	lung
34	chr2:110323400-110328800	Weak transcription	HMEC	breast
35	chr2:110323400-110331000	Weak transcription	HUVEC	blood vessel
36	chr2:110323400-110332600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:110323400-110343800	Weak transcription	Aorta	Aorta
38	chr2:110323400-110348000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:110323400-110348200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:110323600-110328400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:110323600-110328600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:110323600-110328600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:110323600-110330800	Weak transcription	Left Ventricle	heart
44	chr2:110323600-110341000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:110323600-110344200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:110323800-110328400	Weak transcription	Fetal Intestine Large	intestine
47	chr2:110324000-110337400	Weak transcription	Fetal Intestine Small	intestine
48	chr2:110324000-110342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:110324000-110348400	Weak transcription	Hela-S3	cervix
50	chr2:110324000-110370400	Weak transcription	Esophagus	oesophagus

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