Variant report

Variant	rs13431149
Chromosome Location	chr2:56193665-56193666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10185077	0.98[ASN][1000 genomes]
rs10192259	0.94[ASN][1000 genomes]
rs11125611	0.93[ASN][1000 genomes]
rs12472832	0.94[ASN][1000 genomes]
rs1432560	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432561	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432563	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432564	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1465685	0.97[ASN][1000 genomes]
rs1583266	0.93[ASN][1000 genomes]
rs1583267	0.94[ASN][1000 genomes]
rs1897478	0.94[ASN][1000 genomes]
rs2278366	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2868984	0.98[ASN][1000 genomes]
rs34552760	0.98[ASN][1000 genomes]
rs3972318	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4258837	0.92[CHB][hapmap]
rs4453721	0.95[ASN][1000 genomes]
rs4635565	0.92[ASN][1000 genomes]
rs4672080	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672081	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4672082	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55805406	0.96[ASN][1000 genomes]
rs6545531	0.96[ASN][1000 genomes]
rs6704991	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6724998	0.99[ASN][1000 genomes]
rs6733881	0.99[ASN][1000 genomes]
rs6733889	0.95[ASN][1000 genomes]
rs6747490	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724539	0.98[ASN][1000 genomes]
rs724540	0.98[ASN][1000 genomes]
rs7422809	0.90[ASN][1000 genomes]
rs7561395	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561417	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7564964	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs981037	0.89[AMR][1000 genomes];0.90[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13431149	EFEMP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56191000-56195800	Enhancers	HUVEC	blood vessel
2	chr2:56192000-56194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:56192200-56194200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:56192400-56194000	Enhancers	Ovary	ovary
5	chr2:56192400-56194000	Enhancers	Pancreas	Pancrea
6	chr2:56192400-56194200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:56192600-56193800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:56192600-56194000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:56192600-56194200	Enhancers	Adipose Nuclei	Adipose
10	chr2:56193000-56194000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:56193000-56194000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56193000-56194000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:56193000-56194000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:56193000-56194000	Enhancers	Fetal Kidney	kidney
15	chr2:56193000-56194000	Enhancers	Fetal Lung	lung
16	chr2:56193000-56194000	Enhancers	Fetal Stomach	stomach
17	chr2:56193000-56194000	Enhancers	Osteobl	bone
18	chr2:56193000-56194200	Enhancers	Brain Anterior Caudate	brain
19	chr2:56193000-56194200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:56193200-56193800	Enhancers	HSMM	muscle
21	chr2:56193200-56193800	Enhancers	NH-A	brain
22	chr2:56193200-56194000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:56193200-56194000	Enhancers	Brain Hippocampus Middle	brain
24	chr2:56193400-56194000	Enhancers	Spleen	Spleen
25	chr2:56193400-56194200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:56193400-56202400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:56193600-56193800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:56193600-56193800	Enhancers	Right Atrium	heart
29	chr2:56193600-56194000	Enhancers	Fetal Intestine Small	intestine
30	chr2:56193600-56194000	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:56193600-56194000	Enhancers	NHLF	lung
32	chr2:56193600-56194200	Bivalent Enhancer	NHDF-Ad	bronchial

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