Variant report

Variant	rs957280
Chromosome Location	chr8:79028075-79028076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10095221	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10099895	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784050	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258690	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258830	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13272568	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13274461	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278866	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13281068	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481513	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17483138	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368503	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308718	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62510275	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473090	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6989005	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991500	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814012	0.90[AFR][1000 genomes];1.00[ASN][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	nsv526123	chr8:79008608-79046492	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv525612	chr8:79008608-79046695	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs957280	STMN2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79026600-79028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:79026800-79029200	Enhancers	HMEC	breast
3	chr8:79027200-79029200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:79027400-79028400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:79027600-79028800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:79027600-79029000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:79027600-79029200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:79027800-79028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:79027800-79029400	Enhancers	NHEK	skin
10	chr8:79027800-79030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:79027800-79030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:79027800-79031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:79027800-79032400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:79027800-79032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:79028000-79030600	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:79028000-79030600	Enhancers	Primary hematopoietic stem cells short term culture	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