Variant report

Variant	rs62323647
Chromosome Location	chr4:54426123-54426124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13127018	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13144237	0.90[EUR][1000 genomes]
rs17083082	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs932039	0.83[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	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54390400-54430400	Weak transcription	Stomach Mucosa	stomach
2	chr4:54409200-54427000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:54412200-54442400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54416000-54438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:54419800-54430400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:54420000-54437600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:54421400-54428400	Weak transcription	Fetal Stomach	stomach
8	chr4:54421400-54437600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:54421600-54437000	Weak transcription	Pancreas	Pancrea
10	chr4:54424000-54426400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:54424600-54430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:54424600-54430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:54424600-54430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:54424800-54426200	Enhancers	HMEC	breast
15	chr4:54425200-54429000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:54425200-54436800	Weak transcription	Esophagus	oesophagus
17	chr4:54425200-54437000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:54425200-54437600	Weak transcription	Placenta	Placenta
19	chr4:54425200-54457400	Weak transcription	Right Atrium	heart
20	chr4:54425400-54426200	Enhancers	NHEK	skin
21	chr4:54425400-54429600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:54425400-54430200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:54425400-54430400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:54425400-54430600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:54425400-54437600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:54425400-54439200	Weak transcription	Liver	Liver
27	chr4:54425600-54430200	Weak transcription	NHDF-Ad	bronchial
28	chr4:54425800-54430000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:54425800-54430000	Weak transcription	Osteobl	bone
30	chr4:54425800-54430200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:54425800-54430200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:54425800-54430200	Weak transcription	HSMM	muscle
33	chr4:54425800-54430200	Weak transcription	NH-A	brain
34	chr4:54426000-54429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:54426000-54430000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:54426000-54430200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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