Variant report

Variant	rs72797312
Chromosome Location	chr2:38999003-38999004
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38976917..38981227-chr2:38996673..38999010,5	MCF-7	breast:
2	chr2:38971750..38974511-chr2:38998891..39001400,2	K562	blood:
3	chr2:38974922..38979621-chr2:38998984..39003561,8	K562	blood:
4	chr2:38973912..38980240-chr2:38989822..38999883,17	MCF-7	breast:
5	chr2:38977122..38981176-chr2:38994666..38999219,6	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

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

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

rs_ID	r²[population]
rs10196452	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13390845	0.85[AFR][1000 genomes]
rs13412656	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425948	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3099969	0.96[EUR][1000 genomes]
rs3112187	0.95[EUR][1000 genomes]
rs3112190	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1014616	chr2:38985472-39022893	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38994600-39004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:38998200-38999200	Weak transcription	Fetal Heart	heart
4	chr2:38998800-38999200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:38998800-38999200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:38998800-38999200	Enhancers	Placenta	Placenta
7	chr2:38998800-38999400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:38998800-38999400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:38998800-38999400	Enhancers	Hela-S3	cervix
10	chr2:38998800-39000000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:38998800-39000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:38998800-39000000	Enhancers	Spleen	Spleen
13	chr2:38999000-38999200	Flanking Active TSS	HepG2	liver
14	chr2:38999000-38999400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:38999000-38999400	Enhancers	A549	lung
16	chr2:38999000-38999400	Enhancers	HSMM	muscle
17	chr2:38999000-38999400	Enhancers	Osteobl	bone
18	chr2:38999000-38999600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:38999000-38999800	Enhancers	Adipose Nuclei	Adipose
20	chr2:38999000-38999800	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:38999000-39000000	Enhancers	Liver	Liver
22	chr2:38999000-39000000	Enhancers	Fetal Intestine Small	intestine

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