Variant report

Variant	rs55989048
Chromosome Location	chr2:100243088-100243089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11123789	0.88[ASN][1000 genomes]
rs11895560	0.88[ASN][1000 genomes]
rs11900988	0.88[ASN][1000 genomes]
rs11901863	0.90[ASN][1000 genomes]
rs12474603	0.91[ASN][1000 genomes]
rs12612124	0.89[ASN][1000 genomes]
rs12616127	0.89[ASN][1000 genomes]
rs12712052	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1357720	0.81[EUR][1000 genomes]
rs1568785	0.82[EUR][1000 genomes]
rs2309728	0.93[ASN][1000 genomes]
rs34112064	0.88[ASN][1000 genomes]
rs3792128	0.82[ASN][1000 genomes]
rs4568000	0.88[ASN][1000 genomes]
rs4850906	0.81[EUR][1000 genomes]
rs4850908	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4850909	0.81[EUR][1000 genomes]
rs4851218	0.81[EUR][1000 genomes]
rs6712722	0.81[EUR][1000 genomes]
rs6716694	0.83[ASN][1000 genomes]
rs6722898	0.88[ASN][1000 genomes]
rs6728983	0.81[EUR][1000 genomes]
rs7558495	0.86[ASN][1000 genomes]
rs7561197	0.87[ASN][1000 genomes]
rs7561948	0.91[ASN][1000 genomes]
rs7583638	0.81[EUR][1000 genomes]
rs9973326	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100231400-100243400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100234400-100243200	Enhancers	Fetal Brain Male	brain
5	chr2:100235800-100243800	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100236800-100249600	Weak transcription	Thymus	Thymus
7	chr2:100237800-100249400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:100238800-100252600	Weak transcription	Fetal Lung	lung
10	chr2:100239600-100257200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:100240000-100243200	Enhancers	Fetal Heart	heart
12	chr2:100240400-100243200	Weak transcription	Right Atrium	heart
13	chr2:100240600-100249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:100241600-100246200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100242200-100249800	Weak transcription	Pancreas	Pancrea
16	chr2:100242800-100253000	Weak transcription	Fetal Brain Female	brain

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