Variant report

Variant	rs11687248
Chromosome Location	chr2:189144621-189144622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10193506	1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10197499	0.81[ASN][1000 genomes]
rs10931346	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs11689976	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12469904	0.96[ASN][1000 genomes]
rs13022513	0.96[ASN][1000 genomes]
rs13429603	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs34445909	0.96[ASN][1000 genomes]
rs4294965	0.88[ASN][1000 genomes]
rs4396679	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs4402720	0.88[ASN][1000 genomes]
rs4413123	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs4599076	0.96[ASN][1000 genomes]
rs6724636	0.96[ASN][1000 genomes]
rs6753371	1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs7574262	0.81[CEU][hapmap]
rs7598279	0.88[AMR][1000 genomes];0.86[EUR][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189143600-189144800	Enhancers	A549	lung
3	chr2:189143800-189145000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:189143800-189145000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:189144000-189155400	Weak transcription	Aorta	Aorta
6	chr2:189144200-189145000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:189144200-189145000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:189144200-189145200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:189144200-189145600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:189144200-189145600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:189144400-189144800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:189144400-189145600	Weak transcription	Stomach Mucosa	stomach
14	chr2:189144400-189147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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