Variant report

Variant	rs7583344
Chromosome Location	chr2:10393038-10393039
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10392978..10395026-chr2:10400491..10403143,2	K562	blood:
2	chr2:10390359..10393912-chr2:10395616..10397789,3	MCF-7	breast:
3	chr2:10392904..10395765-chr2:10528915..10531340,2	K562	blood:
4	chr2:10392892..10396055-chr2:10586861..10589824,3	K562	blood:
5	chr2:10390216..10392026-chr2:10392709..10394870,2	K562	blood:
6	chr2:10392994..10395994-chr2:10546875..10548738,3	K562	blood:
7	chr2:10382805..10384733-chr2:10392975..10395237,2	MCF-7	breast:
8	chr2:10392294..10394554-chr2:10441498..10444201,2	MCF-7	breast:
9	chr2:10392345..10395188-chr2:10407318..10409008,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11677554	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11688174	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690100	0.84[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11695911	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.91[ASN][1000 genomes]
rs11888584	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1468782	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17379489	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34104566	0.92[ASN][1000 genomes]
rs56306950	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127656	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73914014	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576926	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7580449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv873640	chr2:10385097-10422342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10391600-10394400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10392400-10393800	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:10392400-10394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:10392600-10393200	Weak transcription	K562	blood
5	chr2:10392600-10393800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10392600-10395800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:10392800-10393600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10392800-10394400	Enhancers	Placenta	Placenta
9	chr2:10392800-10399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:10392800-10407600	Weak transcription	Gastric	stomach
11	chr2:10393000-10395000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:10393000-10395200	Enhancers	Monocytes-CD14+_RO01746	blood

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

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