Variant report

Variant	rs10790381
Chromosome Location	chr11:120257495-120257496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120256139..120258853-chr11:120261413..120263735,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10502235	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10750173	0.90[JPT][hapmap]
rs10790383	0.90[JPT][hapmap]
rs10892563	0.82[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap]
rs10892565	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10892566	0.90[JPT][hapmap]
rs10892569	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892575	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217821	0.90[JPT][hapmap]
rs11217843	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217857	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217866	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11217875	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11217878	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11601535	0.88[JPT][hapmap]
rs11823264	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11824032	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11827818	1.00[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12270397	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785387	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12794618	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12806740	0.90[JPT][hapmap]
rs12807097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17123861	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1892894	0.90[JPT][hapmap]
rs1893261	0.90[JPT][hapmap]
rs2276035	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2305008	0.90[JPT][hapmap]
rs2305010	0.90[JPT][hapmap]
rs4381380	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4936517	0.86[ASN][1000 genomes]
rs4936518	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4938799	0.90[JPT][hapmap]
rs4938802	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4938803	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938804	0.89[JPT][hapmap]
rs4938805	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs4938806	0.99[ASN][1000 genomes]
rs4938807	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4938808	0.90[JPT][hapmap]
rs56693116	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6589810	0.99[ASN][1000 genomes]
rs6589812	0.90[JPT][hapmap]
rs6589813	0.97[ASN][1000 genomes]
rs7101415	0.99[ASN][1000 genomes]
rs7107211	0.87[ASN][1000 genomes]
rs7115714	0.96[ASN][1000 genomes]
rs7121779	0.90[JPT][hapmap]
rs7129944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131597	0.90[JPT][hapmap]
rs723937	0.89[JPT][hapmap]
rs7924772	0.96[ASN][1000 genomes]
rs7933086	0.90[JPT][hapmap]
rs7939137	0.90[JPT][hapmap]
rs7948928	0.90[JPT][hapmap]
rs894839	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10790381	ARHGEF12	cis	cerebellum	SCAN
rs10790381	TMEM136	cis	parietal	SCAN
rs10790381	SIDT2	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:120232000-120274800	Weak transcription	Ovary	ovary
3	chr11:120251400-120261200	Weak transcription	Brain Substantia Nigra	brain
4	chr11:120253200-120260800	Weak transcription	Fetal Lung	lung
5	chr11:120254000-120258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:120254200-120257800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:120254200-120258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:120254200-120258000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:120254200-120258400	Enhancers	Liver	Liver
10	chr11:120254400-120257800	Enhancers	Fetal Heart	heart
11	chr11:120254400-120257800	Enhancers	NHDF-Ad	bronchial
12	chr11:120254400-120258000	Enhancers	Osteobl	bone
13	chr11:120254600-120257800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:120254600-120266400	Weak transcription	Gastric	stomach
16	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:120255000-120257600	Enhancers	Colon Smooth Muscle	Colon
18	chr11:120255200-120258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:120255400-120257600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:120255400-120262200	Weak transcription	Right Ventricle	heart
21	chr11:120255600-120257600	Active TSS	Fetal Brain Male	brain
22	chr11:120255600-120259000	Active TSS	Fetal Brain Female	brain
23	chr11:120255600-120260800	Weak transcription	HMEC	breast
24	chr11:120255800-120258000	Enhancers	Adipose Nuclei	Adipose
25	chr11:120255800-120259400	Enhancers	A549	lung
26	chr11:120255800-120262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:120256000-120257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:120256000-120257800	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:120256000-120258200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:120256000-120258200	Active TSS	Brain Germinal Matrix	brain
31	chr11:120256000-120258400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:120256000-120258800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:120256000-120259400	Active TSS	Brain Angular Gyrus	brain
34	chr11:120256200-120257600	Weak transcription	HepG2	liver
35	chr11:120256200-120260600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:120256200-120261000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:120256200-120261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:120256200-120261000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:120256200-120262000	Weak transcription	Left Ventricle	heart
40	chr11:120256200-120262200	Weak transcription	HSMMtube	muscle
41	chr11:120256400-120257800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:120256400-120262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:120256600-120257800	Enhancers	Stomach Mucosa	stomach
44	chr11:120256600-120257800	Enhancers	NHLF	lung
45	chr11:120256600-120260600	Weak transcription	NHEK	skin
46	chr11:120256600-120261800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:120256800-120257600	Weak transcription	Small Intestine	intestine
48	chr11:120256800-120261600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:120256800-120261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:120256800-120262000	Weak transcription	Psoas Muscle	Psoas

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