Variant report

Variant	rs17064497
Chromosome Location	chr13:76033506-76033507
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:8)

rs_ID	r²[population]
rs1022912	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17071226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17256927	0.83[AFR][1000 genomes]
rs17257310	0.91[EUR][1000 genomes]
rs17257372	0.91[EUR][1000 genomes]
rs4883998	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9573552	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76012800-76036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
3	chr13:76020400-76054400	Weak transcription	A549	lung
4	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
5	chr13:76027000-76034800	Weak transcription	HSMMtube	muscle
6	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:76027200-76035000	Weak transcription	Osteobl	bone
8	chr13:76027200-76035200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:76027200-76038600	Weak transcription	HSMM	muscle
10	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
11	chr13:76030200-76033800	Enhancers	Fetal Heart	heart
12	chr13:76030400-76034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:76031000-76034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
15	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:76032000-76033600	Enhancers	Ovary	ovary
17	chr13:76032400-76033600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr13:76032400-76033600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:76032600-76033600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:76032600-76037800	Weak transcription	Gastric	stomach
21	chr13:76032600-76038800	Weak transcription	Right Ventricle	heart
22	chr13:76032800-76033600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:76032800-76033800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:76033000-76033600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:76033000-76033600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:76033000-76033600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:76033000-76033600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:76033000-76033600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:76033000-76033600	Flanking Active TSS	Liver	Liver
30	chr13:76033000-76033600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr13:76033000-76033600	Enhancers	Fetal Kidney	kidney
32	chr13:76033000-76033600	Enhancers	Fetal Lung	lung
33	chr13:76033000-76033600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr13:76033000-76033600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr13:76033000-76033600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr13:76033000-76033600	Enhancers	Stomach Mucosa	stomach
37	chr13:76033000-76033600	Flanking Active TSS	GM12878-XiMat	blood
38	chr13:76033000-76033600	Flanking Active TSS	NHEK	skin
39	chr13:76033000-76033800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:76033000-76034000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr13:76033000-76034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:76033200-76033600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:76033200-76033600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr13:76033200-76033600	Active TSS	HepG2	liver
45	chr13:76033400-76033600	Enhancers	Adipose Nuclei	Adipose
46	chr13:76033400-76033600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr13:76033400-76033600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr13:76033400-76033600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr13:76033400-76033800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:76033400-76033800	Enhancers	HMEC	breast

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