Variant report

Variant	rs3112193
Chromosome Location	chr2:38999269-38999270
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38971750..38974511-chr2:38998891..39001400,2	K562	blood:
2	chr2:38974922..38979621-chr2:38998984..39003561,8	K562	blood:
3	chr2:38973912..38980240-chr2:38989822..38999883,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17023048	1.00[AMR][1000 genomes]
rs17023053	1.00[AMR][1000 genomes]
rs3099964	0.90[AFR][1000 genomes]
rs6727533	1.00[AMR][1000 genomes]
rs72895788	1.00[AMR][1000 genomes]
rs72895791	1.00[AMR][1000 genomes]
rs72895800	1.00[AMR][1000 genomes]
rs72897917	1.00[AMR][1000 genomes]
rs72909148	0.81[AFR][1000 genomes]
rs72909158	0.88[AFR][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:21 , 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	chr2:38998800-38999400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:38998800-38999400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:38998800-38999400	Enhancers	Hela-S3	cervix
6	chr2:38998800-39000000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:38998800-39000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:38998800-39000000	Enhancers	Spleen	Spleen
9	chr2:38999000-38999400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:38999000-38999400	Enhancers	A549	lung
11	chr2:38999000-38999400	Enhancers	HSMM	muscle
12	chr2:38999000-38999400	Enhancers	Osteobl	bone
13	chr2:38999000-38999600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:38999000-38999800	Enhancers	Adipose Nuclei	Adipose
15	chr2:38999000-38999800	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:38999000-39000000	Enhancers	Liver	Liver
17	chr2:38999000-39000000	Enhancers	Fetal Intestine Small	intestine
18	chr2:38999200-38999400	Enhancers	Fetal Heart	heart
19	chr2:38999200-39000000	Enhancers	HepG2	liver
20	chr2:38999200-39000200	Enhancers	Fetal Intestine Large	intestine
21	chr2:38999200-39003600	Weak transcription	Placenta	Placenta

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