Variant report

Variant	rs12442213
Chromosome Location	chr15:78345516-78345517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11072716	0.84[CHB][hapmap]
rs11631578	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs11634607	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12148365	0.83[CHB][hapmap]
rs12591418	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12901812	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12916362	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1348257	0.84[CHB][hapmap]
rs1442293	0.84[CHB][hapmap]
rs1837913	0.83[CHB][hapmap]
rs2028546	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2044099	0.83[CHB][hapmap]
rs2867985	0.83[CHB][hapmap]
rs3803380	0.83[CHB][hapmap]
rs4886553	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4886554	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4886995	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886996	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs4886999	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4887000	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs67559383	0.94[ASN][1000 genomes]
rs7170746	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs7173128	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7176425	0.83[ASN][1000 genomes]
rs8030873	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr15:78327600-78351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:78331400-78348600	Weak transcription	A549	lung
5	chr15:78331600-78348600	Weak transcription	K562	blood
6	chr15:78337000-78347800	Weak transcription	Ovary	ovary
7	chr15:78338800-78347000	Genic enhancers	Fetal Thymus	thymus
8	chr15:78339000-78346400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr15:78340800-78346200	Genic enhancers	Liver	Liver
10	chr15:78341400-78345600	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:78341800-78345600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:78342200-78345600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr15:78342400-78345600	Enhancers	Fetal Heart	heart
14	chr15:78342600-78348600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:78342800-78345800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:78342800-78348600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:78343000-78348400	Weak transcription	HMEC	breast
18	chr15:78343200-78346400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr15:78343200-78354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:78343400-78348600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:78343600-78345800	Enhancers	Adipose Nuclei	Adipose
22	chr15:78343600-78348400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:78343600-78348600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:78343800-78346400	Strong transcription	NHEK	skin
25	chr15:78343800-78347600	Weak transcription	Fetal Brain Male	brain
26	chr15:78343800-78347600	Weak transcription	Hela-S3	cervix
27	chr15:78343800-78348400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:78344000-78345600	Enhancers	HUVEC	blood vessel
29	chr15:78344000-78346200	Genic enhancers	HepG2	liver
30	chr15:78344000-78346600	Genic enhancers	Placenta	Placenta
31	chr15:78344200-78345600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:78344200-78345600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr15:78344400-78346200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:78344400-78346200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr15:78344400-78346200	Genic enhancers	Lung	lung
36	chr15:78344400-78346400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:78344400-78346400	Genic enhancers	Pancreas	Pancrea
38	chr15:78344400-78346400	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:78344400-78346600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:78344400-78346800	Genic enhancers	HSMMtube	muscle
41	chr15:78344400-78352000	Genic enhancers	Fetal Intestine Small	intestine
42	chr15:78344600-78346400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:78344600-78346400	Genic enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:78344600-78346400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr15:78344600-78346400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:78344600-78346600	Genic enhancers	Dnd41	blood
47	chr15:78344600-78348000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:78344800-78345600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:78344800-78345800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:78344800-78346000	Strong transcription	Esophagus	oesophagus

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