Variant report

Variant	rs7580449
Chromosome Location	chr2:10392977-10392978
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000115758	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[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11688174	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690100	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11695911	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11888584	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1468782	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17379489	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34104566	0.92[ASN][1000 genomes]
rs56306950	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62127656	0.90[EUR][1000 genomes]
rs73914014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7583344	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:11 , 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	chr2:10392400-10393000	Enhancers	Stomach Mucosa	stomach
3	chr2:10392400-10393800	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:10392400-10394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:10392600-10393200	Weak transcription	K562	blood
6	chr2:10392600-10393800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:10392600-10395800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:10392800-10393600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:10392800-10394400	Enhancers	Placenta	Placenta
10	chr2:10392800-10399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:10392800-10407600	Weak transcription	Gastric	stomach

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

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