Variant report

Variant	rs72976727
Chromosome Location	chr4:86701137-86701138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10003508	1.00[AMR][1000 genomes]
rs10003616	1.00[AMR][1000 genomes]
rs10006491	1.00[AMR][1000 genomes]
rs10009686	1.00[AMR][1000 genomes]
rs10015628	1.00[AMR][1000 genomes]
rs10020940	1.00[AMR][1000 genomes]
rs10031920	1.00[AMR][1000 genomes]
rs10033604	1.00[AMR][1000 genomes]
rs28380594	1.00[AMR][1000 genomes]
rs28385277	1.00[AMR][1000 genomes]
rs28416247	1.00[AMR][1000 genomes]
rs28417307	1.00[AMR][1000 genomes]
rs28463959	1.00[AMR][1000 genomes]
rs28483739	1.00[AMR][1000 genomes]
rs28556771	1.00[AMR][1000 genomes]
rs28568576	1.00[AMR][1000 genomes]
rs28585433	1.00[AMR][1000 genomes]
rs28652904	1.00[AMR][1000 genomes]
rs28671522	1.00[AMR][1000 genomes]
rs28708671	1.00[AMR][1000 genomes]
rs28733613	1.00[AMR][1000 genomes]
rs72976713	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
2	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
3	chr4:86696000-86703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:86697200-86707800	Weak transcription	Spleen	Spleen
5	chr4:86698000-86701800	Weak transcription	Fetal Heart	heart
6	chr4:86698000-86704800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:86699400-86701200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:86699400-86701800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:86699400-86702000	Active TSS	NH-A	brain
10	chr4:86699400-86702400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr4:86699600-86701200	Active TSS	Aorta	Aorta
12	chr4:86699600-86701200	Active TSS	Right Atrium	heart
13	chr4:86699600-86701200	Active TSS	NHLF	lung
14	chr4:86699600-86701800	Active TSS	Stomach Smooth Muscle	stomach
15	chr4:86699600-86702400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:86699600-86702800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86699800-86701200	Active TSS	Fetal Muscle Trunk	muscle
18	chr4:86699800-86701200	Active TSS	Fetal Stomach	stomach
19	chr4:86699800-86701200	Active TSS	HSMMtube	muscle
20	chr4:86699800-86701800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:86699800-86701800	Active TSS	Fetal Muscle Leg	muscle
22	chr4:86699800-86702200	Active TSS	HUVEC	blood vessel
23	chr4:86700000-86701800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:86700200-86702200	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:86700200-86705000	Weak transcription	Liver	Liver
26	chr4:86700400-86701200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:86700400-86701400	Enhancers	GM12878-XiMat	blood
28	chr4:86700600-86701200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:86700600-86701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:86700600-86701800	Weak transcription	Brain Anterior Caudate	brain
31	chr4:86700600-86706800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:86700800-86701200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:86700800-86701200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr4:86700800-86701200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr4:86700800-86701200	Flanking Active TSS	Osteobl	bone
36	chr4:86700800-86701800	Weak transcription	Fetal Lung	lung
37	chr4:86700800-86703000	Weak transcription	Left Ventricle	heart
38	chr4:86701000-86701200	Active TSS	Primary B cells from cord blood	blood
39	chr4:86701000-86701200	Enhancers	Fetal Kidney	kidney
40	chr4:86701000-86701200	Enhancers	HSMM	muscle
41	chr4:86701000-86701800	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:86701000-86701800	Weak transcription	Fetal Intestine Large	intestine
43	chr4:86701000-86702400	Active TSS	Adipose Nuclei	Adipose
44	chr4:86701000-86702800	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:86701000-86704600	Weak transcription	A549	lung
46	chr4:86701000-86704800	Weak transcription	Ovary	ovary
47	chr4:86701000-86705200	Weak transcription	Psoas Muscle	Psoas
48	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:86701000-86708000	Weak transcription	HMEC	breast
50	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart

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