Variant report

Variant	rs1367226
Chromosome Location	chr2:56089540-56089541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56088294..56090507-chr2:56095007..56097587,2	K562	blood:
2	chr2:56089463..56091242-chr2:56092326..56094493,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11125607	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125608	0.93[ASN][1000 genomes]
rs12478566	0.83[ASN][1000 genomes]
rs1344732	0.81[ASN][1000 genomes]
rs1346781	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346783	0.86[ASN][1000 genomes]
rs1346787	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346790	0.96[ASN][1000 genomes]
rs1367225	0.81[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1430189	0.84[ASN][1000 genomes]
rs1430190	0.81[ASN][1000 genomes]
rs1430191	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1430203	0.93[ASN][1000 genomes]
rs1897114	0.93[ASN][1000 genomes]
rs1960050	0.91[ASN][1000 genomes]
rs1985160	0.81[ASN][1000 genomes]
rs1985162	0.81[ASN][1000 genomes]
rs2052933	0.84[ASN][1000 genomes]
rs2115876	0.89[ASN][1000 genomes]
rs2115878	0.86[ASN][1000 genomes]
rs3791676	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4352264	0.98[ASN][1000 genomes]
rs4672074	0.86[ASN][1000 genomes]
rs6545523	0.83[ASN][1000 genomes]
rs6545526	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545527	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708796	0.89[ASN][1000 genomes]
rs6712017	0.84[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6733730	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6743114	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749785	0.82[ASN][1000 genomes]
rs6751403	0.91[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6757057	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7572523	0.89[ASN][1000 genomes]
rs7607070	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7609520	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs934278	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

Variant related diseases (count:1)

Disease	PMID	Source
Height	20881960	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1367226	CCDC85A	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56087800-56089800	Enhancers	NHLF	lung
2	chr2:56088200-56090800	Enhancers	HMEC	breast
3	chr2:56088200-56090800	Enhancers	NHDF-Ad	bronchial
4	chr2:56088600-56089600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:56088600-56089600	Enhancers	Ovary	ovary
6	chr2:56088600-56089600	Flanking Active TSS	Hela-S3	cervix
7	chr2:56088600-56089600	Enhancers	HSMMtube	muscle
8	chr2:56088600-56089800	Enhancers	HSMM	muscle
9	chr2:56088600-56090000	Enhancers	Fetal Stomach	stomach
10	chr2:56088600-56090200	Enhancers	Fetal Lung	lung
11	chr2:56088600-56090400	Enhancers	Adipose Nuclei	Adipose
12	chr2:56088600-56090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:56088600-56090800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:56088600-56090800	Enhancers	NHEK	skin
15	chr2:56088600-56091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:56088600-56092400	Enhancers	HUVEC	blood vessel
17	chr2:56088800-56089600	Enhancers	Fetal Intestine Large	intestine
18	chr2:56088800-56089800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:56088800-56089800	Enhancers	Placenta	Placenta
20	chr2:56088800-56089800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:56089000-56089600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:56089000-56089600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:56089000-56089600	Enhancers	Fetal Intestine Small	intestine
24	chr2:56089000-56089600	Flanking Active TSS	A549	lung
25	chr2:56089000-56089800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:56089000-56089800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:56089000-56090000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:56089000-56090600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:56089200-56089600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:56089200-56089600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:56089200-56089600	Enhancers	Fetal Heart	heart
32	chr2:56089200-56089600	Flanking Active TSS	NH-A	brain
33	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
34	chr2:56089200-56097000	Weak transcription	Lung	lung
35	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
36	chr2:56089400-56089600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:56089400-56089600	Enhancers	Brain Anterior Caudate	brain
38	chr2:56089400-56090200	Enhancers	Stomach Mucosa	stomach
39	chr2:56089400-56090400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:56089400-56090600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:56089400-56091000	Enhancers	Osteobl	bone
42	chr2:56089400-56091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:56089400-56093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:56089400-56097000	Weak transcription	Right Atrium	heart

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