Variant report

Variant	rs2683888
Chromosome Location	chr3:112142394-112142395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11920132	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920218	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924370	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090760	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473485	0.92[EUR][1000 genomes]
rs1601849	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633545	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683893	0.92[EUR][1000 genomes]
rs953716	0.80[EUR][1000 genomes]
rs9847446	0.97[EUR][1000 genomes]
rs9880366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3331778	chr3:112134311-112164058	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112132800-112144200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:112136200-112143000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:112137000-112150400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:112137200-112142400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr3:112137200-112147200	Weak transcription	Placenta	Placenta
6	chr3:112138200-112142400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:112138200-112145000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:112142000-112143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:112142200-112142400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:112142200-112142400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:112142200-112142400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:112142200-112142400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:112142200-112142600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:112142200-112142600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr3:112142200-112145000	Weak transcription	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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