Variant report

Variant	rs17123792
Chromosome Location	chr11:120166016-120166017
allele	A/G
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:0)
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	chr11:120159375..120161536-chr11:120164947..120166851,2	MCF-7	breast:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120104352..120110604-chr11:120164438..120175098,43	MCF-7	breast:
4	chr11:120161703..120167886-chr11:120168928..120172296,6	K562	blood:
5	chr11:120159549..120163046-chr11:120164212..120166890,3	K562	blood:
6	chr11:120161676..120163879-chr11:120164958..120166654,2	MCF-7	breast:
7	chr11:120163792..120168404-chr11:120169163..120175266,6	MCF-7	breast:
8	chr11:120107031..120108654-chr11:120163795..120166406,2	MCF-7	breast:
9	chr11:120125189..120127273-chr11:120164985..120166841,2	K562	blood:
10	chr11:120105986..120110139-chr11:120162692..120168380,9	K562	blood:

No data

No data

No data

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11217788	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11217793	0.84[CHB][hapmap]
rs11217796	0.84[CHB][hapmap]
rs11217801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118517	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120161200-120166400	Enhancers	Duodenum Mucosa	Duodenum
2	chr11:120162600-120166800	Enhancers	Placenta	Placenta
3	chr11:120163600-120166800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:120163800-120166600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120164400-120166600	Enhancers	Hela-S3	cervix
6	chr11:120165000-120166400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120165000-120166800	Enhancers	Fetal Intestine Small	intestine
8	chr11:120165000-120167000	Enhancers	Fetal Intestine Large	intestine
9	chr11:120165200-120166800	Enhancers	NHEK	skin
10	chr11:120165800-120166800	Enhancers	Fetal Heart	heart
11	chr11:120166000-120166200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:120166000-120166200	Enhancers	Colonic Mucosa	Colon
13	chr11:120166000-120166200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr11:120166000-120166200	Enhancers	Pancreas	Pancrea
15	chr11:120166000-120166200	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr11:120166000-120166200	Bivalent Enhancer	NHLF	lung

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

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