Variant report

Variant	rs6987702
Chromosome Location	chr8:126504726-126504727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10956250	0.90[ASN][1000 genomes]
rs12164213	0.86[CEU][hapmap];0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs12677676	0.86[CEU][hapmap]
rs12681878	0.92[ASN][1000 genomes]
rs16900644	0.92[ASN][1000 genomes]
rs35192929	0.91[ASN][1000 genomes]
rs4350001	0.90[ASN][1000 genomes]
rs4552916	0.90[ASN][1000 genomes]
rs4870942	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470358	0.91[ASN][1000 genomes]
rs6470359	0.87[ASN][1000 genomes]
rs6989280	0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7005535	0.91[ASN][1000 genomes]
rs7846135	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Cholesterol, total	19060911	GWAS catalog
LDL cholesterol	19060911	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6987702	NSMCE2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126498600-126509200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:126498600-126509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:126502200-126509800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:126503600-126505000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:126504000-126504800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:126504200-126507000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:126504200-126507000	Weak transcription	Liver	Liver
8	chr8:126504200-126507200	Weak transcription	HepG2	liver
9	chr8:126504200-126511400	Weak transcription	Primary B cells from cord blood	blood
10	chr8:126504400-126506800	Weak transcription	Placenta	Placenta

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

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