Variant report

Variant	rs56989679
Chromosome Location	chr4:86682949-86682950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1031987	0.85[ASN][1000 genomes]
rs11097072	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11097073	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11097074	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11722392	0.93[ASN][1000 genomes]
rs12054628	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12644984	0.91[ASN][1000 genomes]
rs12647014	0.97[ASN][1000 genomes]
rs12650494	0.85[ASN][1000 genomes]
rs13112493	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1482091	0.91[ASN][1000 genomes]
rs1482092	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1482095	0.90[ASN][1000 genomes]
rs17010697	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2624023	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs343848	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs343852	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41477846	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4455406	0.94[ASN][1000 genomes]
rs57065351	0.97[ASN][1000 genomes]
rs6531862	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6531863	0.90[ASN][1000 genomes]
rs6819529	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6831420	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6839040	0.91[ASN][1000 genomes]
rs6853196	0.90[ASN][1000 genomes]
rs6855390	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72656252	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72656285	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72656294	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7661884	0.93[ASN][1000 genomes]
rs7674888	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7675688	0.99[ASN][1000 genomes]
rs7680588	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7682971	0.93[ASN][1000 genomes]
rs7685320	0.91[ASN][1000 genomes]
rs7697134	0.88[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
3	chr4:86673400-86683400	Weak transcription	HSMM	muscle
4	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
5	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:86676200-86683000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:86678200-86685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:86679000-86684600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr4:86680400-86683400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:86680400-86685600	Enhancers	Osteobl	bone
12	chr4:86680600-86683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:86680600-86683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:86681000-86684800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:86681600-86683200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:86681600-86683800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:86681600-86684800	Enhancers	Fetal Stomach	stomach
18	chr4:86681800-86683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:86681800-86683000	Enhancers	Ovary	ovary
20	chr4:86681800-86683000	Enhancers	Pancreas	Pancrea
21	chr4:86681800-86683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:86681800-86684600	Enhancers	Adipose Nuclei	Adipose
23	chr4:86681800-86684800	Enhancers	Fetal Muscle Leg	muscle
24	chr4:86682000-86683200	Strong transcription	Primary B cells from cord blood	blood
25	chr4:86682000-86684400	Weak transcription	Small Intestine	intestine
26	chr4:86682000-86685200	Enhancers	NHDF-Ad	bronchial
27	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
28	chr4:86682200-86684000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr4:86682400-86683000	Flanking Active TSS	Fetal Lung	lung
30	chr4:86682400-86683200	Enhancers	Spleen	Spleen
31	chr4:86682400-86684000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr4:86682600-86684000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:86682800-86683000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr4:86682800-86683000	Flanking Active TSS	NHLF	lung
35	chr4:86682800-86683200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:86682800-86683200	Enhancers	Aorta	Aorta
37	chr4:86682800-86683400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:86682800-86683400	Enhancers	NH-A	brain
39	chr4:86682800-86683600	Enhancers	Brain Anterior Caudate	brain
40	chr4:86682800-86683600	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:86682800-86684000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:86682800-86684400	Enhancers	Fetal Kidney	kidney
43	chr4:86682800-86684600	Enhancers	Brain Substantia Nigra	brain
44	chr4:86682800-86684600	Flanking Active TSS	HUVEC	blood vessel
45	chr4:86682800-86684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:86682800-86684800	Enhancers	Right Atrium	heart

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