Variant report

Variant	rs10176596
Chromosome Location	chr2:64326934-64326935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10165165	0.81[ASN][1000 genomes]
rs10169847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183513	0.81[ASN][1000 genomes]
rs10191854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192104	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192378	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201191	0.84[AMR][1000 genomes]
rs10204631	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13385515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13408188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412068	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418461	0.81[ASN][1000 genomes]
rs13419918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428357	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017834	0.84[YRI][hapmap]
rs28757314	0.81[ASN][1000 genomes]
rs28798530	0.81[ASN][1000 genomes]
rs3731962	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671082	0.84[YRI][hapmap]
rs56028117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56301411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60338887	0.93[ASN][1000 genomes]
rs60882934	1.00[ASN][1000 genomes]
rs717382	0.84[YRI][hapmap]
rs7579828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604199	0.84[YRI][hapmap]

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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64316800-64327400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:64316800-64327800	Strong transcription	Fetal Thymus	thymus
4	chr2:64317000-64328000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr2:64317200-64335600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:64317600-64327000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:64317800-64333200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:64318200-64333600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:64318400-64327000	Strong transcription	Liver	Liver
10	chr2:64318400-64327400	Strong transcription	Placenta	Placenta
11	chr2:64318400-64327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:64318400-64327800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr2:64318400-64327800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:64318400-64328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:64318400-64335600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:64318800-64327000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:64318800-64336400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:64319600-64327600	Strong transcription	HUVEC	blood vessel
19	chr2:64319800-64327000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:64320200-64328000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:64320400-64339200	Weak transcription	NHLF	lung
22	chr2:64320600-64327400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:64320600-64332200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:64320800-64327800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:64321000-64327400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:64321000-64332200	Weak transcription	Hela-S3	cervix
27	chr2:64321200-64330400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:64321600-64327000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:64321600-64327800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:64321800-64327400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:64321800-64328400	Strong transcription	HepG2	liver
32	chr2:64322200-64336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:64322400-64336000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:64322800-64332400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:64322800-64335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:64323400-64328600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:64323400-64329800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:64323400-64333200	Weak transcription	Pancreas	Pancrea
39	chr2:64323400-64334000	Weak transcription	Esophagus	oesophagus
40	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
41	chr2:64323600-64328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:64323600-64328200	Weak transcription	NH-A	brain
43	chr2:64323600-64330000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:64323600-64330200	Weak transcription	Stomach Mucosa	stomach
45	chr2:64323600-64330600	Weak transcription	NHEK	skin
46	chr2:64323600-64333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:64323600-64333000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:64323600-64333200	Weak transcription	NHDF-Ad	bronchial
49	chr2:64323600-64336000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:64323600-64336000	Weak transcription	Brain Angular Gyrus	brain

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