Variant report

Variant	rs1452681
Chromosome Location	chr4:86705664-86705665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10516758	1.00[ASN][1000 genomes]
rs10516759	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10516760	1.00[CHB][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs10516761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10516762	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13125320	1.00[ASN][1000 genomes]
rs17395020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395223	1.00[ASN][1000 genomes]
rs17395916	1.00[CHB][hapmap]
rs17399123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];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	1.00[ASN][1000 genomes]
rs2601851	1.00[CHB][hapmap]
rs2601870	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	1.00[CHB][hapmap]
rs345330	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs345334	1.00[ASN][1000 genomes]
rs345340	1.00[ASN][1000 genomes]
rs345355	1.00[ASN][1000 genomes]
rs345359	1.00[ASN][1000 genomes]
rs55937611	1.00[ASN][1000 genomes]
rs56305839	1.00[ASN][1000 genomes]
rs71599426	1.00[ASN][1000 genomes]
rs71599428	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745892	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	esv3465621	chr4:86704703-86707567	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3465618	chr4:86704769-86707507	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3465622	chr4:86704769-86707507	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1452681	IBSP	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
2	chr4:86697200-86707800	Weak transcription	Spleen	Spleen
3	chr4:86700600-86706800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:86701000-86708000	Weak transcription	HMEC	breast
6	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
7	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
8	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
11	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
12	chr4:86702400-86707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:86703600-86706000	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:86703800-86705800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:86704000-86715600	Enhancers	Osteobl	bone
16	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
17	chr4:86704200-86705800	Flanking Active TSS	HUVEC	blood vessel
18	chr4:86704200-86706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:86704200-86706400	Enhancers	HSMM	muscle
20	chr4:86704400-86709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:86704400-86710000	Enhancers	NHLF	lung
22	chr4:86704600-86706400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:86704800-86705800	Enhancers	Adipose Nuclei	Adipose
24	chr4:86704800-86705800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:86704800-86706000	Enhancers	Ovary	ovary
26	chr4:86704800-86706400	Enhancers	HSMMtube	muscle
27	chr4:86705000-86705800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:86705000-86705800	Enhancers	Liver	Liver
29	chr4:86705000-86705800	Enhancers	Fetal Stomach	stomach
30	chr4:86705000-86706000	Enhancers	Left Ventricle	heart
31	chr4:86705000-86712600	Weak transcription	Primary B cells from cord blood	blood
32	chr4:86705200-86705800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:86705200-86705800	Enhancers	Psoas Muscle	Psoas
34	chr4:86705200-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:86705400-86706000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:86705400-86706600	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:86705400-86707200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:86705400-86707800	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:86705400-86711200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:86705600-86705800	Enhancers	Aorta	Aorta
41	chr4:86705600-86705800	Enhancers	Esophagus	oesophagus
42	chr4:86705600-86706000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:86705600-86706000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:86705600-86707000	Enhancers	Small Intestine	intestine
45	chr4:86705600-86707800	Weak transcription	A549	lung
46	chr4:86705600-86708000	Weak transcription	NH-A	brain

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