Variant report

Variant	rs6750153
Chromosome Location	chr2:182884176-182884177
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182602919..182608806-chr2:182883835..182887841,7	MCF-7	breast:
2	chr2:182815537..182821500-chr2:182882210..182887020,9	MCF-7	breast:
3	chr2:182787404..182790011-chr2:182883297..182885395,2	MCF-7	breast:
4	chr2:182882960..182887260-chr2:182931387..182935614,8	MCF-7	breast:
5	chr2:182882713..182885519-chr2:182907947..182910260,2	K562	blood:
6	chr2:182884072..182887118-chr2:182924056..182928704,4	MCF-7	breast:
7	chr2:182880540..182889219-chr2:182930483..182937514,17	MCF-7	breast:
8	chr2:182746032..182748076-chr2:182883942..182885472,2	MCF-7	breast:
9	chr2:182862171..182864492-chr2:182883282..182885196,2	MCF-7	breast:
10	chr2:182755546..182763410-chr2:182881457..182887322,14	MCF-7	breast:
11	chr2:182754599..182765670-chr2:182881701..182887661,28	MCF-7	breast:
12	chr2:182879005..182882272-chr2:182882883..182886992,5	MCF-7	breast:
13	chr2:182880362..182889935-chr2:182937119..182944893,30	MCF-7	breast:
14	chr2:182788506..182790558-chr2:182882645..182885587,2	MCF-7	breast:
15	chr2:182767750..182771715-chr2:182883912..182886743,3	MCF-7	breast:
16	chr2:182806851..182810464-chr2:182880780..182885268,4	MCF-7	breast:
17	chr2:182773653..182775415-chr2:182882507..182884573,2	MCF-7	breast:
18	chr2:182880158..182888359-chr2:182937576..182947086,29	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000260742	Chromatin interaction
ENSG00000150722	Chromatin interaction
ENSG00000221023	Chromatin interaction
ENSG00000138434	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10497591	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10497592	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16822397	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16822446	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16822454	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16822458	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16822460	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs58836112	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61711545	1.00[AMR][1000 genomes]
rs7569843	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588817	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7608147	0.92[AFR][1000 genomes];1.00[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182879800-182885000	Weak transcription	Fetal Thymus	thymus
3	chr2:182880800-182884800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:182880800-182885400	Weak transcription	Stomach Mucosa	stomach
5	chr2:182883000-182886000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:182883000-182886800	Enhancers	Hela-S3	cervix
7	chr2:182883400-182884800	Enhancers	NHLF	lung
8	chr2:182883400-182885000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:182883400-182885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:182883400-182885200	Weak transcription	NHEK	skin
11	chr2:182883600-182884600	Weak transcription	NH-A	brain
12	chr2:182883600-182884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:182883600-182885000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:182883600-182885000	Weak transcription	Osteobl	bone
15	chr2:182883600-182885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:182883600-182885200	Weak transcription	HMEC	breast
17	chr2:182883600-182885600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:182884000-182886000	Enhancers	Fetal Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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