Variant report

Variant	rs8080
Chromosome Location	chr2:55775724-55775725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1013138	0.80[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12612227	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12617627	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12618859	0.88[JPT][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12619903	0.87[YRI][hapmap]
rs12620407	0.83[AMR][1000 genomes]
rs12986444	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12986587	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs12986797	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12992408	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.80[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12992827	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs12993624	0.88[JPT][hapmap];0.92[LWK][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12997291	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12998664	0.88[JPT][hapmap]
rs12998780	0.93[CEU][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12999506	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12999680	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12999966	0.87[YRI][hapmap]
rs13001425	0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs13003270	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13005678	0.94[ASN][1000 genomes]
rs13006502	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13009239	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009447	0.89[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap]
rs13009906	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs13010217	0.87[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13014123	0.83[AMR][1000 genomes]
rs13014898	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13015018	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015030	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13015744	0.87[CEU][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018767	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13019595	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13021958	0.92[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025331	0.87[CEU][hapmap];0.80[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13027095	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13027803	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13032503	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[ASN][1000 genomes]
rs1318672	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17737233	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs17800203	0.80[AMR][1000 genomes]
rs1822513	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2291336	0.88[JPT][hapmap]
rs34013926	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34129478	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34143512	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34513671	0.83[AMR][1000 genomes]
rs34679603	0.84[ASN][1000 genomes]
rs35124901	0.86[AFR][1000 genomes]
rs3791654	0.87[CEU][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3828238	0.82[ASW][hapmap];0.88[JPT][hapmap]
rs4312532	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4322879	0.84[JPT][hapmap];0.91[YRI][hapmap]
rs5012561	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs55888859	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56122729	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66545054	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6737995	0.88[JPT][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs6753530	0.84[JPT][hapmap]
rs6757006	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs7575170	0.86[CHB][hapmap];0.84[JPT][hapmap];0.87[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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS 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	11 gene(s)	inside rSNPs	diseases
5	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55747800-55784000	Weak transcription	Esophagus	oesophagus
2	chr2:55748000-55784000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55748000-55788000	Weak transcription	Colonic Mucosa	Colon
4	chr2:55748000-55793800	Weak transcription	Psoas Muscle	Psoas
5	chr2:55748200-55775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:55748200-55777400	Weak transcription	NHLF	lung
7	chr2:55748200-55778800	Weak transcription	Fetal Heart	heart
8	chr2:55748200-55782400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:55752600-55788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
11	chr2:55753600-55786600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:55754000-55784000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:55754400-55783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:55758200-55781200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:55758200-55783800	Weak transcription	Gastric	stomach
16	chr2:55758200-55784000	Weak transcription	Pancreas	Pancrea
17	chr2:55758400-55776000	Weak transcription	HUVEC	blood vessel
18	chr2:55758600-55784000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:55760800-55788000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:55761000-55788200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:55761200-55777200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:55761400-55781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:55762000-55783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:55762200-55782600	Weak transcription	NHEK	skin
25	chr2:55762200-55784000	Weak transcription	Right Ventricle	heart
26	chr2:55762800-55781000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:55765000-55776800	Weak transcription	GM12878-XiMat	blood
28	chr2:55765200-55780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:55766400-55783000	Weak transcription	Fetal Brain Male	brain
30	chr2:55767000-55784000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55768600-55777200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:55768800-55778400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:55769200-55777000	Strong transcription	HSMM	muscle
34	chr2:55769400-55777800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:55769400-55778200	Strong transcription	Adipose Nuclei	Adipose
36	chr2:55769400-55778400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:55769600-55777000	Strong transcription	Osteobl	bone
38	chr2:55769600-55777600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:55769600-55778000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:55769600-55778200	Strong transcription	Fetal Thymus	thymus
41	chr2:55769600-55778800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:55769800-55777400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:55769800-55782600	Strong transcription	Fetal Intestine Large	intestine
45	chr2:55769800-55788200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:55770000-55778200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:55770000-55778600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:55770000-55787000	Strong transcription	Dnd41	blood
49	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
50	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood

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