Variant report

Variant	rs9916075
Chromosome Location	chr17:33642561-33642562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11080337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12601550	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55889228	0.93[EUR][1000 genomes]
rs7210737	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7221873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33640000-33643200	Enhancers	HMEC	breast
2	chr17:33640200-33643200	Enhancers	NHLF	lung
3	chr17:33640400-33643000	Enhancers	NHDF-Ad	bronchial
4	chr17:33640400-33643000	Enhancers	NHEK	skin
5	chr17:33640800-33643000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:33640800-33643200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:33640800-33650200	Weak transcription	Aorta	Aorta
8	chr17:33641000-33643400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:33641200-33642600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr17:33641200-33643000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:33641200-33650400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:33641200-33668600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:33641400-33642600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:33641400-33642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr17:33641400-33643200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr17:33641400-33643200	Enhancers	Hela-S3	cervix
17	chr17:33641400-33643400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:33641400-33653200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr17:33641600-33642600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:33641600-33642600	Enhancers	Ovary	ovary
21	chr17:33641600-33642800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr17:33641600-33643200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr17:33641600-33643400	Enhancers	Adipose Nuclei	Adipose
24	chr17:33641600-33650200	Weak transcription	Thymus	Thymus
25	chr17:33641800-33642600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr17:33641800-33643000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr17:33641800-33643000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr17:33641800-33643000	Enhancers	Osteobl	bone
29	chr17:33641800-33643200	Enhancers	HSMM	muscle
30	chr17:33641800-33643200	Enhancers	HSMMtube	muscle
31	chr17:33641800-33648800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:33641800-33654600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:33642000-33642600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr17:33642000-33642600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr17:33642000-33642600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr17:33642000-33642600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:33642000-33642600	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:33642000-33643200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr17:33642000-33644800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:33642000-33648800	Weak transcription	Primary T cells from cord blood	blood
41	chr17:33642000-33648800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr17:33642200-33642800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:33642200-33643000	Enhancers	Stomach Mucosa	stomach
44	chr17:33642200-33643200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr17:33642200-33645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:33642200-33649000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:33642200-33652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:33642400-33642600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr17:33642400-33642600	Bivalent Enhancer	Fetal Lung	lung
50	chr17:33642400-33642600	Bivalent Enhancer	Fetal Stomach	stomach

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