Variant report

Variant	rs772104
Chromosome Location	chr17:33641950-33641951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1000457	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1081681	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11080339	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11080341	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11080342	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11080343	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11869519	0.81[JPT][hapmap]
rs12449840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12451576	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12453983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1399284	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1514490	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1533329	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1554043	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1554045	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1554046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1949263	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1961017	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2376046	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2928997	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35716910	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3902986	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074590	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074591	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4503848	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4796074	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6505458	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6505459	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6505461	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6505462	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7209244	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7211671	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7215259	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7219864	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7220501	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8079268	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9893160	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9904880	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9915102	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457724	chr17:33609247-33691409	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv574742	chr17:33609247-33691409	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33640000-33642200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr17:33640000-33642400	Enhancers	Lung	lung
3	chr17:33640000-33642400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr17:33640000-33643200	Enhancers	HMEC	breast
5	chr17:33640200-33643200	Enhancers	NHLF	lung
6	chr17:33640400-33643000	Enhancers	NHDF-Ad	bronchial
7	chr17:33640400-33643000	Enhancers	NHEK	skin
8	chr17:33640600-33642400	Weak transcription	HUVEC	blood vessel
9	chr17:33640600-33642400	Weak transcription	K562	blood
10	chr17:33640800-33642000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr17:33640800-33642000	Enhancers	Gastric	stomach
12	chr17:33640800-33643000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:33640800-33643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:33640800-33650200	Weak transcription	Aorta	Aorta
15	chr17:33641000-33642200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:33641000-33642400	Enhancers	Right Ventricle	heart
17	chr17:33641000-33643400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:33641200-33642000	Enhancers	Primary T cells from cord blood	blood
19	chr17:33641200-33642000	Enhancers	Brain Anterior Caudate	brain
20	chr17:33641200-33642000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr17:33641200-33642000	Enhancers	Fetal Thymus	thymus
22	chr17:33641200-33642000	Enhancers	Spleen	Spleen
23	chr17:33641200-33642200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:33641200-33642200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr17:33641200-33642200	Weak transcription	Stomach Mucosa	stomach
26	chr17:33641200-33642400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:33641200-33642400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:33641200-33642600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr17:33641200-33643000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:33641200-33650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:33641200-33668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:33641400-33642000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr17:33641400-33642000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr17:33641400-33642000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr17:33641400-33642000	Enhancers	Pancreas	Pancrea
36	chr17:33641400-33642200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:33641400-33642200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:33641400-33642200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:33641400-33642400	Enhancers	Left Ventricle	heart
40	chr17:33641400-33642400	Enhancers	Psoas Muscle	Psoas
41	chr17:33641400-33642400	Enhancers	Right Atrium	heart
42	chr17:33641400-33642600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:33641400-33642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr17:33641400-33643200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr17:33641400-33643200	Enhancers	Hela-S3	cervix
46	chr17:33641400-33643400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr17:33641400-33653200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr17:33641600-33642000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr17:33641600-33642000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:33641600-33642000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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