Variant report

Variant	rs17386472
Chromosome Location	chr5:37832798-37832799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37828282..37831109-chr5:37832662..37834431,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11738696	0.82[EUR][1000 genomes]
rs11740708	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11745806	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11747340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11951867	1.00[CEU][hapmap]
rs16903732	1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[EUR][1000 genomes]
rs17379667	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3812047	0.83[CEU][hapmap];1.00[MEX][hapmap]
rs55750779	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56000387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56049351	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358931	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62358932	0.82[EUR][1000 genomes]
rs62358933	0.82[EUR][1000 genomes]
rs62360366	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360369	0.90[EUR][1000 genomes]
rs62360370	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360371	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62360373	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62360376	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62360378	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7721618	1.00[CHD][hapmap];0.90[GIH][hapmap]
rs7731209	1.00[CHD][hapmap];0.89[GIH][hapmap]
rs949859	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:37829000-37833800	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:37830600-37832800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:37830800-37832800	Weak transcription	Ovary	ovary
7	chr5:37831400-37833400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:37831600-37833000	Enhancers	HMEC	breast
9	chr5:37831600-37833400	Enhancers	NHEK	skin
10	chr5:37831600-37833800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:37831800-37832800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr5:37831800-37833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:37831800-37833000	Genic enhancers	Stomach Smooth Muscle	stomach
14	chr5:37831800-37833000	Enhancers	HepG2	liver
15	chr5:37831800-37833600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:37831800-37834200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:37832000-37834000	Genic enhancers	NHDF-Ad	bronchial
18	chr5:37832200-37832800	Bivalent Enhancer	Fetal Brain Female	brain
19	chr5:37832200-37832800	Flanking Active TSS	Osteobl	bone
20	chr5:37832200-37833000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:37832200-37834000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:37832200-37834200	Enhancers	Brain Hippocampus Middle	brain
23	chr5:37832200-37834200	Enhancers	Fetal Stomach	stomach
24	chr5:37832400-37832800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
25	chr5:37832400-37832800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:37832400-37832800	Enhancers	Colon Smooth Muscle	Colon
27	chr5:37832400-37833000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr5:37832400-37833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:37832400-37833000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:37832400-37833200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr5:37832400-37834400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr5:37832600-37832800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr5:37832600-37832800	Bivalent Enhancer	Fetal Kidney	kidney
34	chr5:37832600-37833000	Bivalent Enhancer	Fetal Brain Male	brain
35	chr5:37832600-37834200	Enhancers	Brain Substantia Nigra	brain
36	chr5:37832600-37834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:37832600-37834600	Weak transcription	Liver	Liver
38	chr5:37832600-37834600	Strong transcription	HSMMtube	muscle

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