Variant report

Variant	rs12668786
Chromosome Location	chr7:27499184-27499185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:27499142-27499364	MCF10A-Er-Src	breast:	n/a	chr7:27499221-27499230

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27499005..27501080-chr7:27501761..27504235,2	K562	blood:

Variant related genes	Relation type
PSMC1P2	TF binding region
EIF4HP1	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1076210	0.82[EUR][1000 genomes]
rs10951165	0.85[CEU][hapmap]
rs1104957	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11563380	0.85[CEU][hapmap]
rs11563567	0.85[CEU][hapmap]
rs11761657	0.95[ASN][1000 genomes]
rs11764302	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11978918	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs12536609	0.82[ASN][1000 genomes]
rs12540632	0.95[ASN][1000 genomes]
rs12666726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667457	0.82[EUR][1000 genomes]
rs12668753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668981	0.82[EUR][1000 genomes]
rs12673629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17155265	0.97[ASN][1000 genomes]
rs17155267	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17155270	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17429641	0.85[CEU][hapmap]
rs17429648	0.85[CEU][hapmap]
rs17439221	0.85[CEU][hapmap]
rs17439235	0.85[CEU][hapmap]
rs17743751	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs36039417	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3735572	0.96[ASN][1000 genomes]
rs3735573	0.94[ASN][1000 genomes]
rs4298409	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs4470906	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs55692627	0.94[ASN][1000 genomes]
rs56294122	0.82[EUR][1000 genomes]
rs57356952	0.83[EUR][1000 genomes]
rs58842477	0.82[EUR][1000 genomes]
rs6966735	0.85[EUR][1000 genomes]
rs6967510	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72595217	0.82[EUR][1000 genomes]
rs72595220	0.82[EUR][1000 genomes]
rs7790517	0.83[EUR][1000 genomes]
rs929242	0.85[CEU][hapmap]

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	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12668786	LOC441204	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27498000-27499800	Enhancers	Osteobl	bone
2	chr7:27498400-27499200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:27498400-27499400	Enhancers	Adipose Nuclei	Adipose
4	chr7:27498400-27499400	Enhancers	Fetal Stomach	stomach
5	chr7:27498400-27499400	Enhancers	NHLF	lung
6	chr7:27498600-27499200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:27498600-27499600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:27498600-27499600	Enhancers	Fetal Lung	lung
9	chr7:27498800-27499200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:27498800-27499200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:27498800-27499200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:27498800-27499200	Enhancers	Fetal Muscle Leg	muscle
13	chr7:27498800-27499400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:27498800-27499400	Flanking Active TSS	NHDF-Ad	bronchial
15	chr7:27499000-27499200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:27499000-27499400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:27499000-27499400	Enhancers	Colon Smooth Muscle	Colon

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