Variant report

Variant	rs11238465
Chromosome Location	chr10:43672148-43672149
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	chr10:43663898..43667538-chr10:43670554..43672479,3	K562	blood:
2	chr10:43662445..43666919-chr10:43668804..43672479,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10159558	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238441	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12258585	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12260994	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12262152	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765436	0.93[ASN][1000 genomes]
rs12765715	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12765838	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12766298	0.93[ASN][1000 genomes]
rs12775330	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12775743	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12779732	0.93[ASN][1000 genomes]
rs17363630	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799939	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1800863	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1864393	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075911	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28401552	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900627	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3026776	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026779	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026781	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3026782	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34817887	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4987091	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7074319	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086299	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096367	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71505665	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71505667	0.93[ASN][1000 genomes]
rs71505668	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72783237	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72783242	0.93[ASN][1000 genomes]
rs7893332	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903283	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910648	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921281	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7923256	0.83[AMR][1000 genomes]
rs9804209	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription 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 lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
2	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
3	chr10:43654600-43678000	Weak transcription	Hela-S3	cervix
4	chr10:43655000-43680600	Weak transcription	Colonic Mucosa	Colon
5	chr10:43655800-43673000	Weak transcription	Fetal Kidney	kidney
6	chr10:43656000-43674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:43656400-43673400	Weak transcription	Psoas Muscle	Psoas
8	chr10:43658800-43690600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:43659000-43672600	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:43659800-43674800	Weak transcription	A549	lung
11	chr10:43660000-43673000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:43660400-43687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:43662000-43677000	Strong transcription	Osteobl	bone
14	chr10:43662200-43684400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:43662200-43697600	Weak transcription	NHEK	skin
16	chr10:43662600-43690000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:43662800-43681600	Weak transcription	HMEC	breast
18	chr10:43663000-43678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:43663600-43679800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr10:43663600-43683800	Strong transcription	Fetal Thymus	thymus
21	chr10:43663800-43673000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:43663800-43673200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr10:43664000-43673000	Strong transcription	Primary T cells from cord blood	blood
24	chr10:43664000-43673200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr10:43664000-43679600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr10:43664000-43680400	Strong transcription	Dnd41	blood
27	chr10:43664200-43672400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:43664200-43673200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr10:43664200-43676800	Strong transcription	HSMMtube	muscle
30	chr10:43664400-43675600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:43664600-43674800	Weak transcription	Lung	lung
32	chr10:43664800-43675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:43665200-43680000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:43665400-43679400	Strong transcription	Thymus	Thymus
35	chr10:43665400-43679800	Strong transcription	Adipose Nuclei	Adipose
36	chr10:43665600-43673200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr10:43665600-43673400	Strong transcription	Fetal Muscle Leg	muscle
38	chr10:43665800-43672800	Strong transcription	Fetal Stomach	stomach
39	chr10:43666600-43673200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:43666800-43672800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:43667400-43679400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr10:43667600-43673200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:43667600-43675000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:43667600-43679200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr10:43667800-43685200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr10:43667800-43692800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:43668000-43672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:43668000-43672600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr10:43668000-43685200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr10:43668200-43673200	Weak transcription	Fetal Intestine Small	intestine

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