Variant report

Variant	rs7120057
Chromosome Location	chr11:67340477-67340478
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67339086..67341329-chr11:67409211..67412100,2	K562	blood:
2	chr11:67339423..67341248-chr11:67342794..67345312,3	K562	blood:
3	chr11:67339734..67342343-chr11:67345681..67348171,3	MCF-7	breast:
4	chr11:67339423..67342315-chr11:67342794..67345312,3	K562	blood:
5	chr11:67338809..67340795-chr11:67349639..67351450,2	K562	blood:
6	chr11:67340062..67340769-chr11:67415307..67416088,2	MCF-7	breast:
7	chr11:67340001..67340780-chr11:67350687..67351670,3	K562	blood:
8	chr11:67339832..67340773-chr11:67374066..67374800,2	MCF-7	breast:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57481052	1.00[AMR][1000 genomes]
rs61731773	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67336400-67345200	Weak transcription	Gastric	stomach
2	chr11:67339800-67341000	Enhancers	GM12878-XiMat	blood
3	chr11:67339800-67341400	Enhancers	Fetal Intestine Large	intestine
4	chr11:67339800-67343200	Enhancers	HUVEC	blood vessel
5	chr11:67340200-67340600	Flanking Active TSS	Fetal Intestine Small	intestine
6	chr11:67340200-67340800	Active TSS	Duodenum Mucosa	Duodenum
7	chr11:67340200-67341200	Flanking Active TSS	K562	blood
8	chr11:67340400-67340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:67340400-67340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:67340400-67340600	Enhancers	Pancreas	Pancrea
11	chr11:67340400-67340600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:67340400-67340600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:67340400-67340800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:67340400-67340800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:67340400-67340800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:67340400-67340800	Flanking Active TSS	A549	lung
17	chr11:67340400-67340800	Flanking Active TSS	HepG2	liver
18	chr11:67340400-67341000	Flanking Active TSS	Hela-S3	cervix
19	chr11:67340400-67341200	Enhancers	Stomach Mucosa	stomach

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

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