Variant report

Variant	rs419306
Chromosome Location	chr5:88611231-88611232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs771439	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88608200-88611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:88608400-88611800	Enhancers	HMEC	breast
3	chr5:88608400-88611800	Enhancers	HSMM	muscle
4	chr5:88608600-88611800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:88608600-88611800	Enhancers	Osteobl	bone
6	chr5:88608800-88611400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:88608800-88612000	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:88609000-88611400	Enhancers	Psoas Muscle	Psoas
9	chr5:88609000-88611600	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:88609000-88611600	Enhancers	NHLF	lung
11	chr5:88609000-88611800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:88609000-88612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:88609200-88611400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:88609200-88611600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:88609200-88611800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:88609200-88611800	Enhancers	HSMMtube	muscle
17	chr5:88609200-88612000	Enhancers	Colon Smooth Muscle	Colon
18	chr5:88609400-88612000	Enhancers	Primary B cells from cord blood	blood
19	chr5:88609600-88611400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:88609600-88612000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:88609600-88612000	Enhancers	Fetal Muscle Leg	muscle
22	chr5:88610000-88611400	Flanking Active TSS	GM12878-XiMat	blood
23	chr5:88610000-88612000	Enhancers	Fetal Lung	lung
24	chr5:88610000-88612000	Enhancers	Ovary	ovary
25	chr5:88610200-88611600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:88610200-88611800	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:88610400-88611600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:88610600-88611600	Weak transcription	K562	blood
29	chr5:88610600-88611800	Enhancers	NH-A	brain
30	chr5:88611000-88611400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr5:88611000-88611600	Enhancers	Fetal Intestine Small	intestine
32	chr5:88611000-88611600	Enhancers	HepG2	liver
33	chr5:88611200-88611400	Enhancers	Fetal Stomach	stomach
34	chr5:88611200-88611600	Enhancers	NHDF-Ad	bronchial
35	chr5:88611200-88611800	Enhancers	Fetal Brain Male	brain
36	chr5:88611200-88611800	Weak transcription	Pancreas	Pancrea
37	chr5:88611200-88612000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links