Variant report

Variant	rs1430191
Chromosome Location	chr2:56033427-56033428
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	chr2:56033387..56036369-chr2:56176860..56179763,2	K562	blood:

Variant related genes	Relation type
ENSG00000202344	Chromatin interaction
ENSG00000272180	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11125607	0.86[ASN][1000 genomes]
rs11125608	0.83[ASN][1000 genomes]
rs11684982	0.81[AMR][1000 genomes]
rs11694790	0.80[AMR][1000 genomes]
rs12478566	0.90[ASN][1000 genomes]
rs12614845	0.81[AMR][1000 genomes]
rs1344732	0.95[ASN][1000 genomes]
rs1346781	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1346783	0.96[ASN][1000 genomes]
rs1346787	0.86[ASN][1000 genomes]
rs1346790	0.86[ASN][1000 genomes]
rs1367225	0.95[ASN][1000 genomes]
rs1367226	0.86[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1430189	0.98[ASN][1000 genomes]
rs1430190	0.95[ASN][1000 genomes]
rs1430199	0.81[AMR][1000 genomes]
rs1430200	0.81[AMR][1000 genomes]
rs1430203	0.83[ASN][1000 genomes]
rs1465624	0.80[AMR][1000 genomes]
rs1897114	0.86[ASN][1000 genomes]
rs1960050	0.91[ASN][1000 genomes]
rs1985160	0.95[ASN][1000 genomes]
rs1985162	0.95[ASN][1000 genomes]
rs2052933	0.98[ASN][1000 genomes]
rs2115876	0.93[ASN][1000 genomes]
rs2115878	0.93[ASN][1000 genomes]
rs3791676	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4352264	0.84[ASN][1000 genomes]
rs4672074	0.96[ASN][1000 genomes]
rs4672075	0.90[ASN][1000 genomes]
rs6545523	0.93[ASN][1000 genomes]
rs6545526	0.93[ASN][1000 genomes]
rs6545527	0.86[ASN][1000 genomes]
rs6708796	0.93[ASN][1000 genomes]
rs6712017	0.98[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6733730	0.93[ASN][1000 genomes]
rs6743114	0.86[ASN][1000 genomes]
rs6749785	0.93[ASN][1000 genomes]
rs6751403	0.91[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6757057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs72618677	0.80[ASN][1000 genomes]
rs732132	0.83[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7572523	0.93[ASN][1000 genomes]
rs7574127	0.85[ASN][1000 genomes]
rs7607070	0.84[ASN][1000 genomes]
rs7609520	0.93[ASN][1000 genomes]
rs9309269	0.80[AMR][1000 genomes]
rs9309270	0.81[AMR][1000 genomes]
rs934274	0.80[AMR][1000 genomes]
rs934276	0.81[AMR][1000 genomes]
rs934277	0.81[AMR][1000 genomes]
rs934278	0.89[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
rs1430191	CCDC85A	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56030600-56034000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:56031200-56033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:56032000-56033600	Enhancers	Aorta	Aorta
5	chr2:56032000-56033600	Enhancers	Brain Anterior Caudate	brain
6	chr2:56032000-56036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:56032000-56036800	Weak transcription	A549	lung
8	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:56032200-56033600	Enhancers	Brain Substantia Nigra	brain
10	chr2:56032200-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:56032200-56036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:56032200-56036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:56032600-56033800	Enhancers	Brain Hippocampus Middle	brain
14	chr2:56032800-56033600	Enhancers	Brain Germinal Matrix	brain
15	chr2:56033000-56033600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:56033000-56035200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:56033000-56037000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:56033200-56037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56033200-56037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:56033400-56037000	Weak transcription	Fetal Brain Female	brain

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