Variant report

Variant	rs315953
Chromosome Location	chr2:113890003-113890004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs315942	0.83[EUR][1000 genomes]
rs315945	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs315947	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs315951	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs315952	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:113883400-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:113885000-113890400	Strong transcription	NHEK	skin
5	chr2:113885200-113892200	Strong transcription	Esophagus	oesophagus
6	chr2:113885400-113890400	Weak transcription	Fetal Thymus	thymus
7	chr2:113885800-113891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
9	chr2:113886200-113891200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:113887400-113890800	Strong transcription	Gastric	stomach
11	chr2:113887400-113890800	Strong transcription	Spleen	Spleen
12	chr2:113888600-113892000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:113888800-113891000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113888800-113891000	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:113888800-113891200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:113888800-113891600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:113889200-113890800	Weak transcription	HMEC	breast
18	chr2:113889200-113892200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:113889400-113890600	Strong transcription	HepG2	liver
20	chr2:113889400-113892200	Strong transcription	Liver	Liver
21	chr2:113889600-113891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:113889600-113895000	Weak transcription	Stomach Mucosa	stomach
23	chr2:113890000-113890400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:113890000-113890800	Strong transcription	Lung	lung

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