Variant report

Variant	rs315944
Chromosome Location	chr2:113894187-113894188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113837325..113838487-chr2:113894163..113895181,5	K562	blood:
2	chr2:113890813..113893082-chr2:113894067..113895922,2	MCF-7	breast:
3	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:
4	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
5	chr2:113892912..113896093-chr2:113955457..113958866,4	MCF-7	breast:
6	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1586815	1.00[EUR][1000 genomes]
rs2172189	1.00[EUR][1000 genomes]
rs2248588	1.00[EUR][1000 genomes]
rs2248596	1.00[EUR][1000 genomes]
rs2248600	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248604	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28928281	1.00[EUR][1000 genomes]
rs28928283	1.00[EUR][1000 genomes]
rs28928291	1.00[EUR][1000 genomes]
rs28928299	1.00[EUR][1000 genomes]
rs28928300	1.00[EUR][1000 genomes]
rs28928301	1.00[EUR][1000 genomes]
rs28928302	1.00[EUR][1000 genomes]
rs28928304	1.00[EUR][1000 genomes]
rs28928305	1.00[EUR][1000 genomes]
rs28928306	1.00[EUR][1000 genomes]
rs28929168	1.00[EUR][1000 genomes]
rs3099479	1.00[EUR][1000 genomes]
rs315935	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315937	1.00[EUR][1000 genomes]
rs315938	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315939	0.94[YRI][hapmap]
rs315940	0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315941	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315954	0.83[AFR][1000 genomes]
rs315955	1.00[EUR][1000 genomes]
rs4848315	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735388	1.00[EUR][1000 genomes]
rs6761821	1.00[EUR][1000 genomes]
rs7573950	1.00[EUR][1000 genomes]
rs923692	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:27 , 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	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
3	chr2:113889600-113895000	Weak transcription	Stomach Mucosa	stomach
4	chr2:113890400-113894800	Enhancers	Fetal Thymus	thymus
5	chr2:113890800-113895000	Weak transcription	Spleen	Spleen
6	chr2:113891600-113894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113891600-113896200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:113891800-113895800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:113891800-113896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:113892000-113894600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:113892000-113895800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113892000-113895800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:113892000-113896000	Weak transcription	HMEC	breast
16	chr2:113892000-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:113892000-113896200	Weak transcription	NHEK	skin
18	chr2:113892200-113896200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:113892200-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:113892200-113896200	Weak transcription	Liver	Liver
21	chr2:113892200-113896200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:113892200-113896600	Weak transcription	Esophagus	oesophagus
23	chr2:113892800-113894200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:113893200-113894200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:113893200-113895800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:113893200-113896200	Weak transcription	Thymus	Thymus
27	chr2:113894000-113896200	Enhancers	HepG2	liver

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