Variant report

Variant	rs17158594
Chromosome Location	chr10:43659135-43659136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43649271..43651758-chr10:43657631..43659326,2	K562	blood:
2	chr10:43658690..43660453-chr10:43663445..43665579,2	K562	blood:
3	chr10:43657144..43659807-chr10:43661487..43664434,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12773930	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12775743	0.81[CHD][hapmap]
rs12783340	0.88[CHB][hapmap]
rs1799939	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs1864393	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs1879298	0.80[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1879299	0.85[ASN][1000 genomes]
rs3026762	0.81[ASN][1000 genomes]
rs35259566	0.89[ASN][1000 genomes]
rs58153021	0.89[ASN][1000 genomes]
rs66557659	0.89[ASN][1000 genomes]
rs7067798	0.80[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7074319	0.82[CHB][hapmap]
rs7092548	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs71505669	0.89[ASN][1000 genomes]
rs7893332	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs7903283	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7910805	0.82[CHB][hapmap]
rs7921281	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs7923256	0.82[JPT][hapmap];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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43635600-43689000	Weak transcription	Esophagus	oesophagus
2	chr10:43647200-43667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:43647400-43667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:43647600-43659600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:43647600-43664000	Weak transcription	Fetal Brain Male	brain
6	chr10:43647600-43667000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:43649200-43661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:43650400-43667600	Weak transcription	Brain Germinal Matrix	brain
9	chr10:43651000-43671800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:43652400-43668600	Weak transcription	Fetal Heart	heart
11	chr10:43652600-43667800	Weak transcription	Brain Substantia Nigra	brain
12	chr10:43652600-43669800	Weak transcription	Right Ventricle	heart
13	chr10:43652600-43697200	Weak transcription	Pancreas	Pancrea
14	chr10:43653000-43668000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:43653200-43663800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:43653400-43667400	Weak transcription	Fetal Intestine Small	intestine
17	chr10:43654600-43678000	Weak transcription	Hela-S3	cervix
18	chr10:43655000-43680600	Weak transcription	Colonic Mucosa	Colon
19	chr10:43655400-43660400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:43655400-43663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:43655600-43659400	Strong transcription	Dnd41	blood
22	chr10:43655800-43659800	Strong transcription	Primary T cells from cord blood	blood
23	chr10:43655800-43673000	Weak transcription	Fetal Kidney	kidney
24	chr10:43656000-43659400	Strong transcription	Fetal Brain Female	brain
25	chr10:43656000-43660600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:43656000-43667200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:43656000-43667400	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:43656000-43674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:43656200-43660000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:43656200-43660000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:43656200-43660200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr10:43656400-43659400	Strong transcription	Fetal Muscle Leg	muscle
33	chr10:43656400-43660000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:43656400-43660000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr10:43656400-43660000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr10:43656400-43660000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr10:43656400-43664200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:43656400-43673400	Weak transcription	Psoas Muscle	Psoas
39	chr10:43656600-43660000	Strong transcription	Fetal Stomach	stomach
40	chr10:43656600-43660200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:43656600-43660600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:43656800-43659200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr10:43656800-43659400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr10:43656800-43660200	Strong transcription	Ovary	ovary
45	chr10:43656800-43660400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:43657000-43659800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:43657000-43660000	Strong transcription	Primary B cells from cord blood	blood
48	chr10:43657000-43660000	Strong transcription	Adipose Nuclei	Adipose
49	chr10:43657000-43661800	Weak transcription	Stomach Mucosa	stomach
50	chr10:43657000-43668000	Weak transcription	Small Intestine	intestine

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