Variant report

Variant	rs2468088
Chromosome Location	chr12:105193673-105193674
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	chr12:105187897..105189481-chr12:105191929..105194027,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10507183	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10507185	0.83[ASN][1000 genomes]
rs10778354	0.83[ASN][1000 genomes]
rs10778356	0.83[ASN][1000 genomes]
rs10861278	0.95[ASN][1000 genomes]
rs10861280	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10861282	0.87[ASN][1000 genomes]
rs10861291	0.83[ASN][1000 genomes]
rs10861293	0.83[ASN][1000 genomes]
rs10861295	0.83[ASN][1000 genomes]
rs10861297	0.80[ASN][1000 genomes]
rs11112208	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11112234	0.83[ASN][1000 genomes]
rs12230637	0.87[ASN][1000 genomes]
rs1466718	0.81[EUR][1000 genomes]
rs17828033	0.90[ASN][1000 genomes]
rs17829927	0.81[ASN][1000 genomes]
rs1965977	0.81[EUR][1000 genomes]
rs2047126	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2245695	0.82[ASN][1000 genomes]
rs2249941	0.82[ASN][1000 genomes]
rs2252843	0.81[ASN][1000 genomes]
rs2264883	0.82[ASN][1000 genomes]
rs2264893	0.83[ASN][1000 genomes]
rs2453163	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2453164	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2453169	0.94[ASN][1000 genomes]
rs2453170	0.87[EUR][1000 genomes]
rs2453172	0.81[EUR][1000 genomes]
rs2463430	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2468091	0.81[EUR][1000 genomes]
rs2468093	0.81[EUR][1000 genomes]
rs2468094	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468095	0.86[EUR][1000 genomes]
rs2468096	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2468098	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2468103	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468107	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468108	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468336	0.83[ASN][1000 genomes]
rs2468338	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2468339	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2468341	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468342	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468343	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2468344	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468345	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468397	0.84[ASN][1000 genomes]
rs2642119	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2642120	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2730294	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4630370	0.80[ASN][1000 genomes]
rs4644704	0.83[ASN][1000 genomes]
rs7959777	0.83[ASN][1000 genomes]
rs7961766	0.83[ASN][1000 genomes]
rs7971260	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7971392	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9705471	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899496	chr12:105152391-105199038	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv3500874	chr12:105191122-105195920	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3500885	chr12:105191122-105195920	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105187400-105213600	Weak transcription	Pancreas	Pancrea
2	chr12:105189800-105193800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:105189800-105213400	Weak transcription	Aorta	Aorta
4	chr12:105190000-105194200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:105190000-105202800	Weak transcription	Liver	Liver
6	chr12:105191000-105196200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:105193400-105194000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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