Variant report

Variant	rs315942
Chromosome Location	chr2:113895145-113895146
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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	chr2:113842260..113843239-chr2:113894352..113895397,3	MCF-7	breast:
4	chr2:113894550..113895161-chr2:113928691..113929653,2	K562	blood:
5	chr2:113894569..113897651-chr2:113991647..113995572,3	MCF-7	breast:
6	chr2:113894199..113895178-chr2:113956349..113957482,7	MCF-7	breast:
7	chr2:113894207..113895192-chr2:113984604..113985554,2	MCF-7	breast:
8	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:
9	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
10	chr2:113894223..113895276-chr2:113957564..113958721,4	MCF-7	breast:
11	chr2:113892912..113896093-chr2:113955457..113958866,4	MCF-7	breast:
12	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:
13	chr2:113894600..113895171-chr2:114147816..114148753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189223	Chromatin interaction
ENSG00000125618	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11123168	0.83[EUR][1000 genomes]
rs12470101	0.82[EUR][1000 genomes]
rs12475781	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs2121332	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2130991	0.83[EUR][1000 genomes]
rs2264096	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2264390	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3099478	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs315945	0.84[EUR][1000 genomes]
rs315947	0.84[EUR][1000 genomes]
rs315951	0.84[EUR][1000 genomes]
rs315952	0.82[EUR][1000 genomes]
rs315953	0.83[EUR][1000 genomes]
rs315957	0.87[CEU][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs315958	0.91[CEU][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6542118	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs6542119	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6542120	0.89[EUR][1000 genomes]
rs6721033	0.82[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6721720	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7608695	0.81[EUR][1000 genomes]
rs895495	0.91[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs902693	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs931471	0.87[CEU][hapmap];0.88[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:33 , 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	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:113891600-113896200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:113891800-113895800	Weak transcription	Fetal Intestine Small	intestine
7	chr2:113891800-113896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:113892000-113895800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:113892000-113895800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:113892000-113896000	Weak transcription	HMEC	breast
11	chr2:113892000-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:113892000-113896200	Weak transcription	NHEK	skin
13	chr2:113892200-113896200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:113892200-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113892200-113896200	Weak transcription	Liver	Liver
16	chr2:113892200-113896200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:113892200-113896600	Weak transcription	Esophagus	oesophagus
18	chr2:113893200-113895800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:113893200-113896200	Weak transcription	Thymus	Thymus
20	chr2:113894000-113896200	Enhancers	HepG2	liver
21	chr2:113894200-113897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:113894600-113895200	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:113894600-113895200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:113894600-113896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:113894800-113896000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:113894800-113896200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:113894800-113896200	Weak transcription	Fetal Thymus	thymus
28	chr2:113894800-113896800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:113895000-113895200	Enhancers	Stomach Mucosa	stomach
30	chr2:113895000-113895200	Enhancers	Spleen	Spleen
31	chr2:113895000-113896000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:113895000-113896200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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