Variant report

Variant	rs2264883
Chromosome Location	chr12:105330545-105330546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105329305..105332237-chr12:105335409..105337883,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10507183	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10507185	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10778354	0.96[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778356	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861278	0.87[ASN][1000 genomes]
rs10861280	0.84[ASN][1000 genomes]
rs10861282	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861291	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861293	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861295	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861297	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112208	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs11112221	0.91[ASN][1000 genomes]
rs11112234	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12230637	0.87[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17829927	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2047126	0.86[ASN][1000 genomes]
rs2245695	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249941	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252843	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264893	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2453163	0.88[ASN][1000 genomes]
rs2453164	0.88[ASN][1000 genomes]
rs2453169	0.86[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs2463430	0.83[ASN][1000 genomes]
rs2468088	0.82[ASN][1000 genomes]
rs2468094	0.84[ASN][1000 genomes]
rs2468096	0.87[ASN][1000 genomes]
rs2468098	0.87[ASN][1000 genomes]
rs2468103	0.88[ASN][1000 genomes]
rs2468107	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2468108	0.88[ASN][1000 genomes]
rs2468336	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468338	0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2468339	0.87[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2468341	0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2468342	0.84[ASN][1000 genomes]
rs2468343	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2468344	0.82[ASN][1000 genomes]
rs2468345	0.84[ASN][1000 genomes]
rs2468396	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2468397	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2642119	0.88[ASN][1000 genomes]
rs2642120	0.93[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2730294	0.87[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs4130161	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4257060	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4537841	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4630370	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4644704	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964116	0.83[CEU][hapmap]
rs57987047	0.81[EUR][1000 genomes]
rs7959777	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961766	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971260	0.88[ASN][1000 genomes]
rs7971392	0.90[ASN][1000 genomes]
rs9705471	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105290800-105331600	Weak transcription	Gastric	stomach
2	chr12:105320200-105332200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105323600-105338000	Weak transcription	Pancreas	Pancrea
4	chr12:105324800-105332200	Weak transcription	NHDF-Ad	bronchial
5	chr12:105325000-105332200	Weak transcription	Aorta	Aorta
6	chr12:105325000-105332400	Weak transcription	Osteobl	bone
7	chr12:105325600-105332400	Weak transcription	Liver	Liver
8	chr12:105330400-105330600	Weak transcription	GM12878-XiMat	blood

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