Variant report

Variant	rs8071107
Chromosome Location	chr17:17607317-17607318
allele	C/T
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:18)

rs_ID	r²[population]
rs12449524	0.81[YRI][hapmap]
rs12938840	0.84[ASN][1000 genomes]
rs12938914	0.83[ASN][1000 genomes]
rs2001421	0.85[CEU][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2350962	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2882552	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[YRI][hapmap]
rs4074643	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4636969	0.98[ASN][1000 genomes]
rs4924813	0.81[JPT][hapmap]
rs4925103	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4995264	0.84[CEU][hapmap];0.90[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs720856	0.95[JPT][hapmap]
rs7209595	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7213879	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9899364	0.80[CEU][hapmap]
rs9900148	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9905702	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs9907986	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
13	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
16	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
19	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17598800-17608000	Enhancers	Lung	lung
2	chr17:17598800-17608000	Enhancers	Pancreas	Pancrea
3	chr17:17598800-17608200	Enhancers	Left Ventricle	heart
4	chr17:17599200-17607400	Enhancers	Stomach Mucosa	stomach
5	chr17:17599200-17615600	Weak transcription	Primary B cells from cord blood	blood
6	chr17:17599400-17617200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:17599400-17617400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17599600-17612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:17600400-17614800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:17601400-17617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:17601600-17607400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:17601600-17608600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:17602400-17610200	Weak transcription	GM12878-XiMat	blood
14	chr17:17602800-17608000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:17602800-17613200	Weak transcription	Hela-S3	cervix
16	chr17:17602800-17613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:17602800-17613600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:17603600-17613800	Weak transcription	HSMM	muscle
19	chr17:17604200-17607400	Enhancers	Esophagus	oesophagus
20	chr17:17604200-17608200	Enhancers	Right Ventricle	heart
21	chr17:17604200-17608400	Enhancers	Right Atrium	heart
22	chr17:17604200-17608600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:17604200-17613200	Weak transcription	HMEC	breast
24	chr17:17604200-17614000	Weak transcription	Small Intestine	intestine
25	chr17:17604400-17607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:17604400-17607600	Enhancers	Brain Hippocampus Middle	brain
27	chr17:17604400-17607600	Enhancers	Gastric	stomach
28	chr17:17604400-17607600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr17:17604400-17607800	Genic enhancers	Fetal Intestine Small	intestine
30	chr17:17604400-17607800	Genic enhancers	A549	lung
31	chr17:17604400-17608400	Enhancers	Spleen	Spleen
32	chr17:17604400-17609000	Strong transcription	NHEK	skin
33	chr17:17604400-17609800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:17604600-17607400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:17604600-17607600	Enhancers	Brain Anterior Caudate	brain
36	chr17:17604600-17607600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr17:17604600-17607800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:17604600-17607800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:17604600-17608000	Enhancers	Brain Germinal Matrix	brain
40	chr17:17604600-17608600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:17604600-17608600	Strong transcription	Dnd41	blood
42	chr17:17604600-17609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:17604600-17609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:17604600-17609400	Weak transcription	Osteobl	bone
45	chr17:17604600-17609800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:17604800-17607400	Enhancers	Brain Cingulate Gyrus	brain
47	chr17:17604800-17608000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:17604800-17614600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr17:17604800-17614600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr17:17605000-17609400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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