Variant report

Variant	rs73818505
Chromosome Location	chr4:54430614-54430615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1435216	1.00[AMR][1000 genomes]
rs1435217	1.00[AMR][1000 genomes]
rs55823057	1.00[AMR][1000 genomes]
rs56388080	1.00[AMR][1000 genomes]
rs57155745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57685463	1.00[AMR][1000 genomes]
rs58208481	1.00[AMR][1000 genomes]
rs59232300	1.00[AMR][1000 genomes]
rs59761197	1.00[AMR][1000 genomes]
rs59961961	1.00[AMR][1000 genomes]
rs6554110	1.00[AMR][1000 genomes]
rs6554113	1.00[AMR][1000 genomes]
rs6853185	1.00[AMR][1000 genomes]
rs6854868	1.00[AMR][1000 genomes]
rs73145486	1.00[AMR][1000 genomes]
rs73145499	1.00[AMR][1000 genomes]
rs73147405	1.00[AMR][1000 genomes]
rs73818919	1.00[AMR][1000 genomes]
rs7681457	1.00[AMR][1000 genomes]
rs7695583	1.00[AMR][1000 genomes]
rs932038	1.00[AMR][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:54412200-54442400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:54416000-54438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:54420000-54437600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:54421400-54437600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:54421600-54437000	Weak transcription	Pancreas	Pancrea
6	chr4:54425200-54436800	Weak transcription	Esophagus	oesophagus
7	chr4:54425200-54437000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:54425200-54437600	Weak transcription	Placenta	Placenta
9	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
10	chr4:54425400-54437600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:54425400-54439200	Weak transcription	Liver	Liver
12	chr4:54428800-54436600	Weak transcription	Fetal Stomach	stomach
13	chr4:54429400-54430800	Enhancers	HMEC	breast
14	chr4:54429600-54430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:54429600-54430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:54429800-54430800	Enhancers	NHEK	skin
17	chr4:54430000-54430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:54430000-54430800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:54430200-54430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:54430200-54430800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:54430200-54430800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:54430200-54430800	Enhancers	HSMM	muscle
23	chr4:54430200-54430800	Enhancers	NH-A	brain
24	chr4:54430200-54431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:54430400-54430800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:54430400-54430800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:54430400-54430800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:54430400-54430800	Enhancers	Stomach Mucosa	stomach
29	chr4:54430400-54431200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:54430400-54437400	Weak transcription	Gastric	stomach
31	chr4:54430600-54430800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:54430600-54430800	Enhancers	Osteobl	bone
33	chr4:54430600-54431000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:54430600-54431200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:54430600-54431200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr4:54430600-54431200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:54430600-54437000	Weak transcription	Fetal Intestine Small	intestine

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