Variant report

Variant	rs12192101
Chromosome Location	chr6:132283814-132283815
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	6:132282174-132286019..6:132646256-132647474	Hela-S3	cervix:
2	6:132282174-132286019..6:132641847-132646256	GM12878	blood:

Variant related genes	Relation type
ENSG00000079931	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10872386	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10872387	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11154654	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11154656	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12055428	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12192108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202729	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214274	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12663962	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1930994	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1931001	0.99[ASN][1000 genomes]
rs2027034	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452668	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7747551	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768193	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373005	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9375854	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9388952	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402376	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402377	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs975445	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132276200-132287400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:132276600-132297800	Weak transcription	Ovary	ovary
4	chr6:132277000-132287800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:132277200-132287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:132277400-132287600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:132277400-132291200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:132280000-132284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:132280800-132293800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:132281600-132284800	Weak transcription	Stomach Mucosa	stomach
12	chr6:132282000-132284600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:132282000-132291400	Weak transcription	Fetal Brain Male	brain
14	chr6:132282200-132287400	Weak transcription	Osteobl	bone
15	chr6:132282200-132287600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:132282400-132287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:132283800-132284000	Enhancers	HepG2	liver

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