Variant report

Variant	rs12705404
Chromosome Location	chr7:106783164-106783165
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	chr7:106782272..106785008-chr7:106808286..106810216,2	MCF-7	breast:
2	chr7:106781336..106783880-chr7:106809504..106811989,2	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10281856	0.86[GIH][hapmap]
rs1476878	0.84[JPT][hapmap]
rs1476879	0.84[JPT][hapmap]
rs1860803	0.84[GIH][hapmap]
rs2244846	0.84[JPT][hapmap]
rs2251838	0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.83[ASN][1000 genomes]
rs2536495	0.84[JPT][hapmap]
rs2536501	0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.84[ASN][1000 genomes]
rs2536502	0.84[ASN][1000 genomes]
rs2536504	0.84[ASN][1000 genomes]
rs2536508	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2536509	0.95[ASN][1000 genomes]
rs2707377	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466156	0.90[GIH][hapmap];0.82[MEX][hapmap]
rs7808028	0.82[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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12705404	PSMC2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:106767400-106797600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:106773200-106786800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:106779800-106790800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:106780000-106787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:106780000-106807800	Weak transcription	Fetal Heart	heart
9	chr7:106780200-106787800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:106780200-106792000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:106780200-106792200	Weak transcription	Fetal Brain Female	brain
12	chr7:106781400-106783800	Strong transcription	K562	blood
13	chr7:106782000-106783800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:106782000-106788000	Weak transcription	HUVEC	blood vessel
15	chr7:106782000-106795400	Weak transcription	Pancreas	Pancrea
16	chr7:106782400-106784200	Strong transcription	Adipose Nuclei	Adipose
17	chr7:106782400-106788200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:106782600-106783200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:106782600-106808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:106782800-106783200	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:106782800-106783600	Strong transcription	Fetal Stomach	stomach
22	chr7:106782800-106787800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:106782800-106807800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:106783000-106785200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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