Variant report

Variant	rs517664
Chromosome Location	chr15:33170428-33170429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16960230	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs514268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs543354	0.88[CHD][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes]
rs551704	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes]
rs693818	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7182810	1.00[CEU][hapmap]
rs7182816	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking 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	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
2	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:33147000-33191400	Weak transcription	Lung	lung
4	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:33153800-33173200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:33154400-33173800	Weak transcription	Placenta	Placenta
7	chr15:33154400-33192800	Weak transcription	Colonic Mucosa	Colon
8	chr15:33154400-33216800	Weak transcription	Fetal Thymus	thymus
9	chr15:33155000-33208200	Weak transcription	Fetal Kidney	kidney
10	chr15:33160000-33201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:33162000-33178400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:33162200-33176400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:33162200-33202400	Weak transcription	Gastric	stomach
14	chr15:33163400-33174400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:33165000-33171600	Weak transcription	Aorta	Aorta
16	chr15:33165400-33170600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:33165600-33178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:33165800-33171600	Weak transcription	Adipose Nuclei	Adipose
19	chr15:33166000-33170800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:33166000-33175400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:33166000-33202400	Weak transcription	Pancreas	Pancrea
22	chr15:33166200-33211800	Weak transcription	HSMMtube	muscle
23	chr15:33167400-33173800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:33167400-33175000	Weak transcription	A549	lung
25	chr15:33167400-33176400	Weak transcription	Fetal Stomach	stomach
26	chr15:33167800-33171800	Weak transcription	Small Intestine	intestine
27	chr15:33168000-33178400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:33168600-33171400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:33169000-33170600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:33169200-33170600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:33169400-33171000	Enhancers	HUVEC	blood vessel
32	chr15:33169600-33170800	Enhancers	NH-A	brain
33	chr15:33169600-33171800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:33169600-33172000	Enhancers	NHDF-Ad	bronchial
35	chr15:33169800-33170800	Enhancers	HSMM	muscle
36	chr15:33170000-33171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:33170000-33173000	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:33170000-33176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:33170200-33170600	Enhancers	Spleen	Spleen
40	chr15:33170200-33170600	Genic enhancers	NHLF	lung
41	chr15:33170200-33170600	Weak transcription	Osteobl	bone
42	chr15:33170200-33170800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:33170200-33170800	Enhancers	Esophagus	oesophagus
44	chr15:33170200-33171000	Enhancers	Stomach Mucosa	stomach
45	chr15:33170200-33172000	Enhancers	Rectal Smooth Muscle	rectum
46	chr15:33170400-33170600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:33170400-33170800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:33170400-33171600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:33170400-33172200	Enhancers	Colon Smooth Muscle	Colon

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