Variant report

Variant	rs996294
Chromosome Location	chr12:105262540-105262541
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10746008	0.87[CEU][hapmap]
rs10778358	0.87[CEU][hapmap]
rs10861286	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861287	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249454	0.87[CEU][hapmap]
rs4076550	1.00[CEU][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4393404	0.87[CEU][hapmap]
rs6539171	0.81[CEU][hapmap]
rs7135015	0.87[CEU][hapmap]
rs7138686	0.82[CEU][hapmap]
rs7299346	0.85[EUR][1000 genomes]
rs7968763	0.87[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs996294	CHST11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
3	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:105259200-105263800	Weak transcription	Aorta	Aorta
5	chr12:105259200-105264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:105259400-105277800	Weak transcription	Pancreas	Pancrea
7	chr12:105260000-105263800	Weak transcription	GM12878-XiMat	blood
8	chr12:105260000-105267200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:105260000-105267400	Weak transcription	NHDF-Ad	bronchial
10	chr12:105260800-105280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105261400-105263200	Weak transcription	Liver	Liver
12	chr12:105261400-105278000	Weak transcription	Gastric	stomach

Quick Search:

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

what's new

Quick links