Variant report

Variant	rs72903888
Chromosome Location	chr2:188911903-188911904
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12987446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990029	0.87[EUR][1000 genomes]
rs12992671	0.83[EUR][1000 genomes]
rs13006933	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13023212	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1439900	0.81[EUR][1000 genomes]
rs16829628	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16829631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34511378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699014	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67082838	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67732490	0.88[EUR][1000 genomes]
rs67804711	0.81[EUR][1000 genomes]
rs68028976	0.83[EUR][1000 genomes]
rs72907984	0.88[EUR][1000 genomes]
rs72909886	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7565935	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875601	chr2:188871436-188934777	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188899600-188912400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:188904400-188912400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:188905400-188923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:188905600-188915200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:188905600-188915600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:188907000-188915600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:188907000-188916000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:188908200-188912200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:188908400-188915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:188909600-188912400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:188909800-188915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:188909800-188915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:188910800-188915000	Weak transcription	HSMMtube	muscle
14	chr2:188911000-188912000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:188911400-188922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:188911800-188913200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:188911800-188915000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:188911800-188915600	Weak transcription	NH-A	brain

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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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