Variant report

Variant	rs345330
Chromosome Location	chr4:86761733-86761734
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10516758	1.00[ASN][1000 genomes]
rs10516759	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10516760	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10516762	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125320	1.00[ASN][1000 genomes]
rs1452681	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17395020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17395132	1.00[ASN][1000 genomes]
rs17395223	1.00[ASN][1000 genomes]
rs17395916	1.00[CHB][hapmap]
rs17399123	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17399707	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17399908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17400185	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2089763	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601851	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2601864	0.81[CEU][hapmap]
rs2601870	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs343847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs345328	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs345334	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345340	1.00[ASN][1000 genomes]
rs345355	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345359	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55937611	1.00[ASN][1000 genomes]
rs56305839	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71599426	1.00[ASN][1000 genomes]
rs71599428	1.00[ASN][1000 genomes]
rs745892	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv470049	chr4:86750699-86776488	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86737600-86763200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86749400-86787600	Weak transcription	Pancreas	Pancrea
3	chr4:86749600-86763600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:86758000-86763600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:86758600-86763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:86759000-86762400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:86759000-86763400	Weak transcription	NHLF	lung
9	chr4:86759000-86763400	Weak transcription	Osteobl	bone
10	chr4:86759400-86763400	Weak transcription	Adipose Nuclei	Adipose
11	chr4:86759400-86763800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:86760000-86782600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:86760200-86763200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:86760200-86763400	Weak transcription	Fetal Kidney	kidney
15	chr4:86761200-86761800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:86761200-86761800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:86761200-86761800	Enhancers	Left Ventricle	heart
18	chr4:86761200-86761800	Enhancers	Ovary	ovary
19	chr4:86761200-86761800	Enhancers	Stomach Mucosa	stomach
20	chr4:86761200-86762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:86761200-86763200	Enhancers	HUVEC	blood vessel
22	chr4:86761400-86761800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:86761400-86761800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:86761400-86761800	Enhancers	Fetal Lung	lung
25	chr4:86761400-86761800	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:86761400-86761800	Enhancers	HSMM	muscle
27	chr4:86761400-86762000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:86761400-86762200	Enhancers	NHDF-Ad	bronchial
29	chr4:86761600-86761800	Enhancers	Rectal Smooth Muscle	rectum
30	chr4:86761600-86761800	Genic enhancers	HSMMtube	muscle
31	chr4:86761600-86762000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:86761600-86763200	Enhancers	Pancreatic Islets	Pancreatic Islet

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