Variant report

Variant	rs1346781
Chromosome Location	chr2:56037076-56037077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56013752..56016593-chr2:56035639..56038180,2	MCF-7	breast:
2	chr2:56026426..56029048-chr2:56036934..56038666,2	K562	blood:
3	chr2:56036866..56038749-chr2:56067694..56069314,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11125607	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11125608	0.81[ASN][1000 genomes]
rs12478566	0.91[ASN][1000 genomes]
rs1344732	0.93[ASN][1000 genomes]
rs1346783	0.98[ASN][1000 genomes]
rs1346787	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346790	0.84[ASN][1000 genomes]
rs1367225	0.93[ASN][1000 genomes]
rs1367226	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1430189	0.96[ASN][1000 genomes]
rs1430190	0.93[ASN][1000 genomes]
rs1430191	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1430203	0.85[ASN][1000 genomes]
rs1897114	0.88[ASN][1000 genomes]
rs1960050	0.93[ASN][1000 genomes]
rs1985160	0.93[ASN][1000 genomes]
rs1985162	0.93[ASN][1000 genomes]
rs2052933	0.96[ASN][1000 genomes]
rs2115876	0.95[ASN][1000 genomes]
rs2115878	0.95[ASN][1000 genomes]
rs3791676	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4352264	0.86[ASN][1000 genomes]
rs4672074	0.98[ASN][1000 genomes]
rs4672075	0.91[ASN][1000 genomes]
rs6545523	0.95[ASN][1000 genomes]
rs6545526	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545527	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6708796	0.95[ASN][1000 genomes]
rs6712017	0.96[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6733730	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6743114	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6749785	0.95[ASN][1000 genomes]
rs6751403	0.93[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6757057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs732132	0.81[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7572523	0.95[ASN][1000 genomes]
rs7574127	0.83[ASN][1000 genomes]
rs7607070	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7609520	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs934278	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1346781	CCDC85A	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56033200-56037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:56036800-56037400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:56036800-56037400	Enhancers	Fetal Brain Male	brain
5	chr2:56036800-56037600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:56036800-56037600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:56036800-56038000	Enhancers	Fetal Lung	lung
8	chr2:56036800-56038800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:56036800-56038800	Enhancers	A549	lung
10	chr2:56037000-56037200	Enhancers	Fetal Brain Female	brain
11	chr2:56037000-56037400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:56037000-56037600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:56037000-56038000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:56037000-56038000	Enhancers	Aorta	Aorta
15	chr2:56037000-56038600	Enhancers	Adipose Nuclei	Adipose
16	chr2:56037000-56038800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56037000-56038800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56037000-56038800	Enhancers	Hela-S3	cervix

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