Variant report

Variant	rs72819479
Chromosome Location	chr2:95897698-95897699
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	chr2:95897417..95897936-chr2:95943061..95943964,2	MCF-7	breast:
2	chr2:95897194..95898007-chr2:95980563..95981512,3	K562	blood:
3	chr2:95897441..95898067-chr2:95954965..95956415,3	MCF-7	breast:
4	chr2:95896740..95902014-chr2:95979555..95984257,8	MCF-7	breast:
5	chr2:95897105..95898135-chr2:95979103..95980468,4	MCF-7	breast:
6	chr2:95897632..95899440-chr2:96010556..96012852,2	MCF-7	breast:
7	chr2:95896005..95899894-chr2:95970529..95974633,4	MCF-7	breast:
8	chr2:95897087..95898310-chr2:95980483..95981604,32	MCF-7	breast:
9	chr2:95895701..95898147-chr2:96066471..96068922,2	MCF-7	breast:
10	chr2:95896797..95898044-chr2:95980111..95981503,9	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72819453	0.87[EUR][1000 genomes]
rs72819463	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72819465	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819466	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819493	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819495	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72821406	1.00[AMR][1000 genomes];0.83[EUR][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	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:95890600-95906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:95896600-95898200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:95896800-95897800	Weak transcription	Ovary	ovary
4	chr2:95896800-95901000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:95897000-95897800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:95897000-95897800	Enhancers	Brain Angular Gyrus	brain
7	chr2:95897000-95898400	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:95897000-95898400	Enhancers	Brain Hippocampus Middle	brain
9	chr2:95897400-95898200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:95897600-95897800	Enhancers	Brain Anterior Caudate	brain
11	chr2:95897600-95898000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:95897600-95898000	Enhancers	HepG2	liver
13	chr2:95897600-95898000	Enhancers	NHEK	skin
14	chr2:95897600-95898000	Enhancers	Osteobl	bone
15	chr2:95897600-95898400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:95897600-95898400	Enhancers	HMEC	breast
17	chr2:95897600-95898800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:95897600-95898800	Enhancers	Placenta Amnion	Placenta Amnion

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

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