Variant report

Variant	rs13396733
Chromosome Location	chr2:10849552-10849553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10849331..10850106-chr2:10927322..10928322,2	MCF-7	breast:
2	chr2:10849141..10850165-chr2:10971732..10973073,8	MCF-7	breast:
3	chr2:10848479..10850887-chr2:10855426..10858844,3	MCF-7	breast:
4	chr2:10849174..10850156-chr2:10972390..10972975,2	MCF-7	breast:
5	chr2:10828574..10833568-chr2:10841193..10850887,9	MCF-7	breast:
6	chr2:10849041..10849815-chr2:10954294..10955185,3	MCF-7	breast:
7	chr2:10839232..10841337-chr2:10846829..10849660,2	MCF-7	breast:
8	chr2:10849480..10850065-chr2:11269811..11270311,2	MCF-7	breast:
9	chr2:10848115..10851111-chr2:10950918..10953450,4	MCF-7	breast:
10	chr2:10848849..10851678-chr2:10861063..10864476,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C2-3	chr2:10849521-10849893	NONHSAT069126

No data

No data

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000236162	Chromatin interaction
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10929676	0.87[CHB][hapmap]
rs10929693	0.87[CHB][hapmap]
rs13403486	0.81[CHB][hapmap]
rs1534398	0.87[CHB][hapmap]
rs4233885	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs66512512	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67540017	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs881572	0.87[CHB][hapmap]

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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10849200-10850000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10849400-10850000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:10849400-10850000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:10849400-10850000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:10849400-10850000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:10849400-10850000	Enhancers	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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