Variant report

Variant	rs73782563
Chromosome Location	chr5:124318012-124318013
allele	A/G
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]
rs10051075	1.00[EUR][1000 genomes]
rs61712564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886619	1.00[EUR][1000 genomes]
rs73782539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782559	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73784291	1.00[EUR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124314400-124318400	Enhancers	Stomach Mucosa	stomach
2	chr5:124314400-124318600	Enhancers	Fetal Intestine Small	intestine
3	chr5:124314600-124318400	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:124314600-124318400	Enhancers	Fetal Intestine Large	intestine
5	chr5:124314800-124318400	Enhancers	Dnd41	blood
6	chr5:124315000-124318400	Enhancers	Primary B cells from cord blood	blood
7	chr5:124315000-124319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:124316200-124318400	Enhancers	HMEC	breast
9	chr5:124316400-124318400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:124316400-124318400	Enhancers	NHEK	skin
11	chr5:124316800-124318200	Enhancers	GM12878-XiMat	blood
12	chr5:124317000-124318200	Enhancers	Pancreas	Pancrea
13	chr5:124317200-124318200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:124317200-124318200	Enhancers	Gastric	stomach
15	chr5:124317200-124318400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:124317200-124318400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:124317200-124318600	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:124317200-124319200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:124317200-124319600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:124317200-124320000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:124317400-124318200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:124317400-124318400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:124317400-124318400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:124317400-124318400	Enhancers	HepG2	liver
25	chr5:124317400-124318800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:124317600-124318200	Enhancers	Liver	Liver
27	chr5:124317800-124318200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:124317800-124318200	Enhancers	Colonic Mucosa	Colon
29	chr5:124317800-124318200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:124317800-124320400	Weak transcription	Fetal Kidney	kidney
31	chr5:124318000-124318400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:124318000-124318800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:124318000-124319000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:124318000-124319200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:124318000-124319800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links