Variant report

Variant	rs2018383
Chromosome Location	chr4:86791076-86791077
allele	G/T
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:20)

rs_ID	r²[population]
rs1452684	1.00[AMR][1000 genomes]
rs1452685	1.00[AMR][1000 genomes]
rs1901675	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1901676	1.00[AMR][1000 genomes]
rs1901678	1.00[AMR][1000 genomes]
rs2601844	1.00[AMR][1000 genomes]
rs2601848	1.00[AMR][1000 genomes]
rs2601868	1.00[AMR][1000 genomes]
rs2665872	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2665873	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345341	1.00[AMR][1000 genomes]
rs345342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs345344	1.00[AMR][1000 genomes]
rs345345	1.00[AMR][1000 genomes]
rs345349	1.00[AMR][1000 genomes]
rs345350	1.00[AMR][1000 genomes]
rs345351	1.00[AMR][1000 genomes]
rs345352	1.00[AMR][1000 genomes]
rs345357	1.00[AMR][1000 genomes]
rs7693916	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86779800-86800200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:86782800-86791600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:86787800-86791200	Enhancers	HUVEC	blood vessel
5	chr4:86788000-86792200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:86788000-86792600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:86788000-86793800	Weak transcription	Pancreas	Pancrea
8	chr4:86788000-86794200	Weak transcription	Psoas Muscle	Psoas
9	chr4:86788000-86795400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:86788000-86795400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:86788000-86797000	Weak transcription	Ovary	ovary
12	chr4:86788000-86804000	Weak transcription	Aorta	Aorta
13	chr4:86788000-86807400	Weak transcription	Left Ventricle	heart
14	chr4:86788000-86810800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:86788000-86812400	Weak transcription	HSMM	muscle
16	chr4:86788200-86791200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86788200-86791600	Enhancers	NHDF-Ad	bronchial
18	chr4:86788200-86812000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:86788400-86794200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:86788600-86794600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:86789200-86791800	Enhancers	Stomach Mucosa	stomach
22	chr4:86789400-86791600	Enhancers	Fetal Kidney	kidney
23	chr4:86790400-86791200	Enhancers	Right Atrium	heart
24	chr4:86790400-86791200	Enhancers	NHLF	lung
25	chr4:86790600-86791200	Enhancers	Small Intestine	intestine
26	chr4:86790600-86792800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:86791000-86803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:86791000-86804200	Weak transcription	HSMMtube	muscle

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