Variant report

Variant	rs1982430
Chromosome Location	chr4:86702957-86702958
allele	C/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	0.88[EUR][1000 genomes]
rs10033293	0.88[EUR][1000 genomes]
rs12644339	0.87[EUR][1000 genomes]
rs13119793	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13120399	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13127292	0.87[EUR][1000 genomes]
rs17399388	0.88[EUR][1000 genomes]
rs1869238	0.88[EUR][1000 genomes]
rs1982428	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1982429	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28375213	0.88[EUR][1000 genomes]
rs28522299	0.87[EUR][1000 genomes]
rs28544562	0.87[EUR][1000 genomes]
rs62315355	0.84[EUR][1000 genomes]
rs62315356	0.88[EUR][1000 genomes]
rs62315357	0.88[EUR][1000 genomes]
rs6847264	0.87[EUR][1000 genomes]
rs7670874	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9307010	0.87[EUR][1000 genomes]
rs958800	0.87[EUR][1000 genomes]
rs9991970	0.88[EUR][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	chr4:86700800-86703000	Weak transcription	Left Ventricle	heart
9	chr4:86701000-86704600	Weak transcription	A549	lung
10	chr4:86701000-86704800	Weak transcription	Ovary	ovary
11	chr4:86701000-86705200	Weak transcription	Psoas Muscle	Psoas
12	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:86701000-86708000	Weak transcription	HMEC	breast
14	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
15	chr4:86701200-86704600	Weak transcription	Aorta	Aorta
16	chr4:86701200-86705000	Weak transcription	Fetal Stomach	stomach
17	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
18	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:86702200-86703800	Enhancers	NHDF-Ad	bronchial
21	chr4:86702200-86704400	Weak transcription	NHLF	lung
22	chr4:86702200-86704600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:86702200-86705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:86702200-86705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
26	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
27	chr4:86702400-86704200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:86702400-86704200	Weak transcription	Primary B cells from cord blood	blood
29	chr4:86702400-86704200	Weak transcription	NH-A	brain
30	chr4:86702400-86704400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:86702400-86704600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:86702400-86704800	Weak transcription	Adipose Nuclei	Adipose
33	chr4:86702400-86704800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:86702400-86704800	Weak transcription	HSMMtube	muscle
35	chr4:86702400-86707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:86702800-86703000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:86702800-86703000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:86702800-86703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:86702800-86703000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:86702800-86703000	Enhancers	HSMM	muscle
41	chr4:86702800-86703400	Flanking Active TSS	HUVEC	blood vessel
42	chr4:86702800-86703600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:86702800-86703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:86702800-86704000	Weak transcription	Osteobl	bone
45	chr4:86702800-86705000	Weak transcription	Colon Smooth Muscle	Colon

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