Variant report

Variant	rs12712691
Chromosome Location	chr2:40575809-40575810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10182686	0.81[ASN][1000 genomes]
rs10208527	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs12465380	0.91[CHB][hapmap]
rs12611602	1.00[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611608	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2041764	0.82[CHB][hapmap]
rs2192774	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs6742210	0.91[CHB][hapmap]
rs7561383	0.81[ASW][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs7577478	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873914	chr2:40573350-40586022	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12712691	EML4	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
5	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40571400-40576000	Enhancers	Right Atrium	heart
7	chr2:40571400-40576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:40573200-40577000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40573400-40576800	Enhancers	NHLF	lung
11	chr2:40573400-40577200	Enhancers	HSMM	muscle
12	chr2:40573600-40576800	Enhancers	NH-A	brain
13	chr2:40574000-40579600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:40574600-40576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:40574600-40576800	Enhancers	Osteobl	bone
16	chr2:40574600-40579400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:40574600-40579600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:40574600-40580000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:40574600-40580000	Weak transcription	Left Ventricle	heart
20	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
22	chr2:40574800-40576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:40574800-40579600	Weak transcription	Dnd41	blood
24	chr2:40575200-40576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:40575400-40576200	Genic enhancers	Fetal Heart	heart
26	chr2:40575600-40576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:40575600-40576000	Enhancers	Adipose Nuclei	Adipose
28	chr2:40575600-40576200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:40575600-40576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40575600-40576600	Enhancers	HSMMtube	muscle
31	chr2:40575600-40576800	Enhancers	HMEC	breast
32	chr2:40575800-40576000	Enhancers	Ovary	ovary
33	chr2:40575800-40576000	Enhancers	Hela-S3	cervix
34	chr2:40575800-40576200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:40575800-40576400	Enhancers	Right Ventricle	heart
36	chr2:40575800-40576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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