Variant report

Variant	rs58393633
Chromosome Location	chr17:15446829-15446830
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2938158	0.85[EUR][1000 genomes]
rs2954742	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv960418	chr17:15441505-15470653	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3434808	chr17:15444327-15450925	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3395445	chr17:15444877-15459575	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58393633	AC005517.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383400-15455000	Weak transcription	Gastric	stomach
2	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:15406800-15450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:15416200-15466000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:15417600-15466400	Weak transcription	Ovary	ovary
7	chr17:15418600-15450600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:15418800-15450600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:15419800-15448400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:15420000-15448400	Weak transcription	Placenta	Placenta
11	chr17:15420000-15450800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:15420200-15448600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:15420400-15452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:15420600-15459600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:15420800-15448200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:15420800-15448400	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:15420800-15448400	Weak transcription	HSMM	muscle
18	chr17:15420800-15450200	Weak transcription	Brain Germinal Matrix	brain
19	chr17:15421200-15450800	Weak transcription	Fetal Kidney	kidney
20	chr17:15421200-15453000	Weak transcription	Aorta	Aorta
21	chr17:15421800-15465600	Weak transcription	Hela-S3	cervix
22	chr17:15422400-15447000	Weak transcription	HepG2	liver
23	chr17:15422400-15448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:15422800-15465800	Weak transcription	Fetal Intestine Small	intestine
25	chr17:15423000-15448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:15423000-15451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:15429400-15448400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:15429400-15448400	Weak transcription	Fetal Lung	lung
29	chr17:15429400-15450400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:15429800-15448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15429800-15450400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr17:15429800-15466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:15429800-15466400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:15430200-15448400	Weak transcription	Fetal Intestine Large	intestine
35	chr17:15431000-15465400	Weak transcription	K562	blood
36	chr17:15433000-15449400	Weak transcription	HMEC	breast
37	chr17:15433800-15450600	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:15434600-15448600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr17:15435600-15449200	Weak transcription	Fetal Thymus	thymus
40	chr17:15436200-15448400	Weak transcription	HSMMtube	muscle
41	chr17:15437000-15448400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr17:15437200-15450400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:15438400-15448200	Weak transcription	Liver	Liver
44	chr17:15438800-15450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:15439000-15466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:15439600-15450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:15439600-15456000	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:15439600-15466000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:15439800-15466400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr17:15440000-15450800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links