Variant report

Variant	rs11732231
Chromosome Location	chr4:86683560-86683561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10012090	0.81[CEU][hapmap]
rs10516755	0.81[CEU][hapmap]
rs1116117	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11724267	0.87[AFR][1000 genomes]
rs11736641	0.82[CEU][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13105921	0.82[CEU][hapmap]
rs13111293	0.81[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13111662	0.81[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13137008	0.82[CEU][hapmap];0.82[YRI][hapmap]
rs1482085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1482094	0.81[CEU][hapmap]
rs17010812	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17010816	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17010847	0.93[AFR][1000 genomes]
rs2062098	0.81[CEU][hapmap]
rs2101134	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2198328	0.81[CEU][hapmap]
rs2601855	0.82[CEU][hapmap]
rs2624021	0.90[AFR][1000 genomes]
rs28490560	0.90[AFR][1000 genomes]
rs28528923	0.97[ASN][1000 genomes]
rs28621471	0.90[ASN][1000 genomes]
rs2869384	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs343849	0.81[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs343854	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs343860	0.81[CEU][hapmap]
rs34422670	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6828509	1.00[JPT][hapmap]
rs6848047	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs7655100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7658797	0.81[CEU][hapmap]
rs7660252	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7660702	0.81[CEU][hapmap]
rs7677114	0.81[CEU][hapmap]
rs7692808	0.82[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs900203	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs900205	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs994285	0.81[CEU][hapmap]

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

Variant related diseases (count:1)

Disease	PMID	Source
PR interval	23139255	GWAS catalog

Chromatin state (count:47 , 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	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
4	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:86678200-86685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:86679000-86684600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr4:86680400-86685600	Enhancers	Osteobl	bone
9	chr4:86681000-86684800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:86681600-86683800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:86681600-86684800	Enhancers	Fetal Stomach	stomach
12	chr4:86681800-86683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:86681800-86684600	Enhancers	Adipose Nuclei	Adipose
14	chr4:86681800-86684800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:86682000-86684400	Weak transcription	Small Intestine	intestine
16	chr4:86682000-86685200	Enhancers	NHDF-Ad	bronchial
17	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
18	chr4:86682200-86684000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:86682400-86684000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:86682600-86684000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:86682800-86683600	Enhancers	Brain Anterior Caudate	brain
22	chr4:86682800-86683600	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:86682800-86684000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:86682800-86684400	Enhancers	Fetal Kidney	kidney
25	chr4:86682800-86684600	Enhancers	Brain Substantia Nigra	brain
26	chr4:86682800-86684600	Flanking Active TSS	HUVEC	blood vessel
27	chr4:86682800-86684800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:86682800-86684800	Enhancers	Right Atrium	heart
29	chr4:86683000-86684000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:86683000-86684000	Active TSS	Stomach Smooth Muscle	stomach
31	chr4:86683000-86684400	Weak transcription	Ovary	ovary
32	chr4:86683000-86684600	Weak transcription	Pancreas	Pancrea
33	chr4:86683000-86685000	Enhancers	Fetal Lung	lung
34	chr4:86683200-86683600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:86683200-86684400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:86683200-86684800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
38	chr4:86683400-86683800	Active TSS	Aorta	Aorta
39	chr4:86683400-86684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:86683400-86684000	Flanking Active TSS	NH-A	brain
41	chr4:86683400-86684000	Flanking Active TSS	NHLF	lung
42	chr4:86683400-86684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:86683400-86684400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:86683400-86684400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:86683400-86684400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:86683400-86684600	Enhancers	Brain Hippocampus Middle	brain
47	chr4:86683400-86684800	Enhancers	HSMM	muscle

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