Variant report

Variant	rs72613146
Chromosome Location	chr4:86703534-86703535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10516756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12503243	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17010884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17010887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17010892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693739	0.94[ASN][1000 genomes]
rs72613145	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684607	0.81[ASN][1000 genomes]
rs9790551	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9790823	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:45 , 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	chr4:86698000-86704800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:86700200-86705000	Weak transcription	Liver	Liver
7	chr4:86700600-86706800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:86701000-86704600	Weak transcription	A549	lung
9	chr4:86701000-86704800	Weak transcription	Ovary	ovary
10	chr4:86701000-86705200	Weak transcription	Psoas Muscle	Psoas
11	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:86701000-86708000	Weak transcription	HMEC	breast
13	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
14	chr4:86701200-86704600	Weak transcription	Aorta	Aorta
15	chr4:86701200-86705000	Weak transcription	Fetal Stomach	stomach
16	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
17	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:86702200-86703800	Enhancers	NHDF-Ad	bronchial
20	chr4:86702200-86704400	Weak transcription	NHLF	lung
21	chr4:86702200-86704600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:86702200-86705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:86702200-86705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
25	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
26	chr4:86702400-86704200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:86702400-86704200	Weak transcription	Primary B cells from cord blood	blood
28	chr4:86702400-86704200	Weak transcription	NH-A	brain
29	chr4:86702400-86704400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:86702400-86704600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:86702400-86704800	Weak transcription	Adipose Nuclei	Adipose
32	chr4:86702400-86704800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:86702400-86704800	Weak transcription	HSMMtube	muscle
34	chr4:86702400-86707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:86702800-86703600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:86702800-86703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:86702800-86704000	Weak transcription	Osteobl	bone
38	chr4:86702800-86705000	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:86703000-86704200	Weak transcription	HSMM	muscle
40	chr4:86703000-86705000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:86703000-86705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:86703000-86705400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:86703200-86705000	Weak transcription	Left Ventricle	heart
44	chr4:86703400-86703600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
45	chr4:86703400-86704000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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