Variant report

Variant	rs11988416
Chromosome Location	chr8:121333937-121333938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16893923	1.00[ASN][1000 genomes]
rs4871071	1.00[ASN][1000 genomes]
rs6989609	1.00[ASN][1000 genomes]
rs6990426	1.00[ASN][1000 genomes]
rs7824721	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11988416	TMEM65	cis	parietal	SCAN
rs11988416	MTBP	cis	parietal	SCAN
rs11988416	MTBP	cis	cerebellum	SCAN
rs11988416	MRPL13	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121284800-121347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121320400-121372600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121322400-121337400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121323200-121344800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121323800-121345800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:121325200-121334600	Weak transcription	Placenta	Placenta
7	chr8:121327600-121334000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:121328600-121340800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:121331000-121336600	Weak transcription	Fetal Lung	lung
10	chr8:121331000-121336600	Weak transcription	Ovary	ovary
11	chr8:121331800-121336600	Weak transcription	Osteobl	bone
12	chr8:121332000-121336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:121332200-121336600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:121332200-121336800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121332200-121338800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:121332400-121336600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121332400-121336600	Weak transcription	Fetal Stomach	stomach
18	chr8:121333800-121336600	Weak transcription	Aorta	Aorta
19	chr8:121333800-121383800	Weak transcription	Fetal Intestine Large	intestine

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