Variant report

Variant	rs72972060
Chromosome Location	chr4:86832380-86832381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17011151	1.00[AMR][1000 genomes]
rs17011153	1.00[AMR][1000 genomes]
rs17011184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57974495	1.00[AMR][1000 genomes]
rs72970076	1.00[AMR][1000 genomes]
rs72972047	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv2753470	chr4:86804078-86844350	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers 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	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
4	chr4:86815800-86842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:86823800-86832400	Weak transcription	NHDF-Ad	bronchial
6	chr4:86826800-86845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:86827400-86834200	Weak transcription	Stomach Mucosa	stomach
8	chr4:86827600-86835400	Weak transcription	Small Intestine	intestine
9	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
10	chr4:86828800-86834000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:86828800-86834200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:86829600-86843800	Weak transcription	Primary B cells from cord blood	blood
13	chr4:86830800-86834400	Weak transcription	Fetal Kidney	kidney
14	chr4:86831000-86832400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:86831000-86832400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:86831000-86832400	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:86831000-86832400	Enhancers	Pancreas	Pancrea
18	chr4:86831000-86832600	Enhancers	Gastric	stomach
19	chr4:86831200-86832400	Enhancers	Right Ventricle	heart
20	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
21	chr4:86831400-86832400	Weak transcription	Lung	lung
22	chr4:86831400-86832400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:86831400-86833000	Weak transcription	Esophagus	oesophagus
24	chr4:86831600-86832400	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:86831600-86834800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:86831800-86832400	Enhancers	Fetal Thymus	thymus
27	chr4:86831800-86832600	Enhancers	Thymus	Thymus
28	chr4:86832000-86833000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:86832200-86832400	Enhancers	Left Ventricle	heart

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