Variant report

Variant	rs11997479
Chromosome Location	chr8:105187321-105187322
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10087022	0.87[ASN][1000 genomes]
rs11985151	1.00[ASN][1000 genomes]
rs11985239	1.00[ASN][1000 genomes]
rs16871008	0.87[ASN][1000 genomes]
rs3808399	1.00[JPT][hapmap]
rs56408627	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57117148	1.00[ASN][1000 genomes]
rs57637112	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7012041	1.00[ASN][1000 genomes]
rs73301323	1.00[ASN][1000 genomes]
rs73301327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73301365	1.00[ASN][1000 genomes]
rs73301384	1.00[ASN][1000 genomes]
rs73699081	0.87[ASN][1000 genomes]
rs7825885	0.87[YRI][hapmap]
rs7836089	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11997479	CSTA	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105156400-105188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105186600-105188000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:105186600-105188000	Enhancers	NHEK	skin
4	chr8:105186800-105188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:105187000-105187400	Enhancers	HMEC	breast
6	chr8:105187000-105187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:105187200-105188200	Enhancers	GM12878-XiMat	blood

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