Variant report

Variant	rs1808054
Chromosome Location	chr2:182886102-182886103
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:19 , 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	chr2:182882960..182887260-chr2:182931387..182935614,8	MCF-7	breast:
4	chr2:182775265..182779288-chr2:182885219..182887763,3	MCF-7	breast:
5	chr2:182884072..182887118-chr2:182924056..182928704,4	MCF-7	breast:
6	chr2:182880540..182889219-chr2:182930483..182937514,17	MCF-7	breast:
7	chr2:182878350..182883617-chr2:182884641..182888824,4	MCF-7	breast:
8	chr2:182767335..182770167-chr2:182885743..182887524,2	MCF-7	breast:
9	chr2:182755546..182763410-chr2:182881457..182887322,14	MCF-7	breast:
10	chr2:182754599..182765670-chr2:182881701..182887661,28	MCF-7	breast:
11	chr2:182884188..182888119-chr2:182990048..182995139,6	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	chr2:182885316..182887646-chr2:182929633..182931322,2	MCF-7	breast:
15	chr2:182767750..182771715-chr2:182883912..182886743,3	MCF-7	breast:
16	chr2:182798416..182800516-chr2:182884535..182886696,2	MCF-7	breast:
17	chr2:182885247..182888264-chr2:182945298..182948359,3	MCF-7	breast:
18	chr2:182880158..182888359-chr2:182937576..182947086,29	MCF-7	breast:
19	chr2:182792850..182795214-chr2:182884772..182886542,2	MCF-7	breast:

No data

No data

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1196137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16822346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57243191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7564741	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182883000-182886800	Enhancers	Hela-S3	cervix
3	chr2:182884400-182886800	Enhancers	Dnd41	blood
4	chr2:182884800-182888400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:182885000-182886200	Enhancers	Fetal Thymus	thymus
6	chr2:182886000-182886400	Weak transcription	Fetal Lung	lung
7	chr2:182886000-182887000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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