Variant report

Variant	rs17399388
Chromosome Location	chr4:86708569-86708570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10020335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033293	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120399	0.81[EUR][1000 genomes]
rs13127292	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982429	0.88[EUR][1000 genomes]
rs1982430	0.88[EUR][1000 genomes]
rs28375213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28544562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28841671	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3028238	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62315355	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62315356	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62315357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847264	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670874	0.88[EUR][1000 genomes]
rs9307010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991970	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
2	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
3	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
6	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
7	chr4:86704000-86715600	Enhancers	Osteobl	bone
8	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
9	chr4:86704400-86709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:86704400-86710000	Enhancers	NHLF	lung
11	chr4:86705000-86712600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:86705200-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:86705400-86711200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:86705800-86708800	Weak transcription	Esophagus	oesophagus
15	chr4:86705800-86710000	Weak transcription	Adipose Nuclei	Adipose
16	chr4:86705800-86710200	Weak transcription	Psoas Muscle	Psoas
17	chr4:86705800-86710800	Weak transcription	Fetal Stomach	stomach
18	chr4:86705800-86719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:86706000-86709000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:86706400-86712800	Enhancers	HUVEC	blood vessel
21	chr4:86706600-86711800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:86707000-86708800	Weak transcription	Small Intestine	intestine
23	chr4:86707400-86709200	Enhancers	HSMM	muscle
24	chr4:86707600-86708600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:86707600-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:86707600-86710200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:86707800-86708600	Enhancers	Spleen	Spleen
28	chr4:86707800-86709000	Enhancers	HSMMtube	muscle
29	chr4:86707800-86709400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:86707800-86709400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:86708000-86708600	Enhancers	HMEC	breast
32	chr4:86708000-86709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:86708000-86709000	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:86708000-86709000	Enhancers	NH-A	brain
35	chr4:86708200-86708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:86708200-86708600	Active TSS	A549	lung
37	chr4:86708200-86709000	Enhancers	Pancreas	Pancrea
38	chr4:86708200-86709400	Enhancers	Primary B cells from peripheral blood	blood
39	chr4:86708400-86708600	Enhancers	Colon Smooth Muscle	Colon
40	chr4:86708400-86709400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:86708400-86718200	Weak transcription	Aorta	Aorta

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