Variant report

Variant	rs2874053
Chromosome Location	chr1:180105578-180105579
allele	A/C
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	chr1:180104470..180106814-chr1:180110099..180112797,3	K562	blood:
2	chr1:180105408..180107246-chr1:180123861..180125610,2	K562	blood:
3	chr1:180098705..180101372-chr1:180105512..180107387,2	MCF-7	breast:
4	chr1:180104990..180107036-chr1:180115597..180118209,2	K562	blood:
5	chr1:180105036..180107165-chr1:180200973..180202930,2	MCF-7	breast:
6	chr1:180103058..180105624-chr1:180121749..180125496,3	MCF-7	breast:
7	chr1:180103980..180105902-chr1:180120420..180121995,2	MCF-7	breast:
8	chr1:180103401..180107232-chr1:180135881..180138747,3	MCF-7	breast:
9	chr1:180103740..180108161-chr1:180108399..180112441,6	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4652468	0.82[ASN][1000 genomes]
rs4652469	0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs57071059	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180104200-180107000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:180104800-180105600	Enhancers	HUVEC	blood vessel
3	chr1:180104800-180105800	Enhancers	Osteobl	bone
4	chr1:180104800-180106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:180105400-180105600	Enhancers	NHLF	lung
6	chr1:180105400-180105800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:180105400-180105800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:180105400-180105800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:180105400-180105800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:180105400-180105800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:180105400-180105800	Enhancers	Placenta	Placenta
12	chr1:180105400-180105800	Enhancers	Hela-S3	cervix
13	chr1:180105400-180105800	Enhancers	NH-A	brain
14	chr1:180105400-180106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:180105400-180106200	Enhancers	NHEK	skin

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

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