Variant report

Variant	rs12315904
Chromosome Location	chr12:105280443-105280444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11112248	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11112252	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11112314	1.00[ASW][hapmap];0.85[MKK][hapmap]
rs12296570	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297659	0.87[AMR][1000 genomes]
rs12298260	1.00[MEX][hapmap]
rs12305186	0.87[AMR][1000 genomes]
rs12317565	0.87[AMR][1000 genomes]
rs12319837	0.87[AMR][1000 genomes]
rs12321362	1.00[MEX][hapmap]
rs12321666	0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs12322073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961764	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980785	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105267800-105284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105273800-105288200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105275400-105297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:105276400-105281800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:105278200-105281000	Enhancers	Fetal Lung	lung
6	chr12:105278200-105284400	Weak transcription	Aorta	Aorta
7	chr12:105278200-105284400	Weak transcription	Gastric	stomach
8	chr12:105278400-105293200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:105278600-105281600	Enhancers	Hela-S3	cervix
10	chr12:105278600-105313800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:105279600-105280800	Enhancers	HUVEC	blood vessel
12	chr12:105279600-105281200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:105280000-105280600	Enhancers	NHDF-Ad	bronchial
14	chr12:105280000-105280800	Flanking Active TSS	A549	lung
15	chr12:105280200-105280800	Enhancers	NHEK	skin
16	chr12:105280400-105280600	Enhancers	NHLF	lung
17	chr12:105280400-105280600	Enhancers	Osteobl	bone
18	chr12:105280400-105281800	Weak transcription	Liver	Liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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