Variant report

Variant	rs9995525
Chromosome Location	chr4:86700465-86700466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13108382	0.92[AMR][1000 genomes]
rs13150113	0.92[AMR][1000 genomes]
rs28587441	1.00[AMR][1000 genomes]
rs2869382	0.92[AMR][1000 genomes]
rs3943498	0.92[AMR][1000 genomes]
rs7654689	0.92[AMR][1000 genomes]
rs7679553	0.92[AMR][1000 genomes]
rs7684989	0.92[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:57 , 50 per page) page: 1 2

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	chr4:86699400-86700800	Active TSS	NHDF-Ad	bronchial
8	chr4:86699400-86701000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr4:86699400-86701200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:86699400-86701800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:86699400-86702000	Active TSS	NH-A	brain
12	chr4:86699400-86702400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:86699600-86700600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:86699600-86700600	Enhancers	Brain Anterior Caudate	brain
15	chr4:86699600-86701000	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:86699600-86701200	Active TSS	Aorta	Aorta
17	chr4:86699600-86701200	Active TSS	Right Atrium	heart
18	chr4:86699600-86701200	Active TSS	NHLF	lung
19	chr4:86699600-86701800	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:86699600-86702400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:86699600-86702800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:86699800-86700600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:86699800-86700600	Active TSS	Brain Hippocampus Middle	brain
24	chr4:86699800-86700600	Active TSS	A549	lung
25	chr4:86699800-86700800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:86699800-86700800	Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:86699800-86700800	Active TSS	Fetal Intestine Large	intestine
28	chr4:86699800-86700800	Active TSS	Ovary	ovary
29	chr4:86699800-86700800	Active TSS	Osteobl	bone
30	chr4:86699800-86701000	Active TSS	Colon Smooth Muscle	Colon
31	chr4:86699800-86701000	Active TSS	Psoas Muscle	Psoas
32	chr4:86699800-86701000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:86699800-86701000	Active TSS	Right Ventricle	heart
34	chr4:86699800-86701000	Active TSS	HSMM	muscle
35	chr4:86699800-86701200	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:86699800-86701200	Active TSS	Fetal Stomach	stomach
37	chr4:86699800-86701200	Active TSS	HSMMtube	muscle
38	chr4:86699800-86701800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:86699800-86701800	Active TSS	Fetal Muscle Leg	muscle
40	chr4:86699800-86702200	Active TSS	HUVEC	blood vessel
41	chr4:86700000-86700600	Active TSS	Colonic Mucosa	Colon
42	chr4:86700000-86700600	Active TSS	Fetal Intestine Small	intestine
43	chr4:86700000-86700800	Active TSS	Fetal Lung	lung
44	chr4:86700000-86701800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:86700200-86700600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:86700200-86700600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:86700200-86700600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr4:86700200-86702200	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:86700200-86705000	Weak transcription	Liver	Liver
50	chr4:86700400-86700600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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