Variant report

Variant	rs315939
Chromosome Location	chr2:113895403-113895404
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113890813..113893082-chr2:113894067..113895922,2	MCF-7	breast:
2	chr2:113895331..113896490-chr2:113956383..113957293,5	MCF-7	breast:
3	chr2:113894569..113897651-chr2:113991647..113995572,3	MCF-7	breast:
4	chr2:113895312..113896612-chr2:113933996..113935124,4	MCF-7	breast:
5	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:
6	chr2:113895343..113896160-chr2:113957461..113958420,2	MCF-7	breast:
7	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
8	chr2:113892912..113896093-chr2:113955457..113958866,4	MCF-7	breast:
9	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2248600	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs2248604	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2254511	0.83[YRI][hapmap]
rs315938	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs315940	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs315941	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs315944	0.94[YRI][hapmap]
rs315950	0.84[YRI][hapmap]

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	chr2:113894600-113896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:113894800-113896000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:113894800-113896200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:113894800-113896200	Weak transcription	Fetal Thymus	thymus
26	chr2:113894800-113896800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:113895000-113896000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:113895000-113896200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:113895200-113895600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:113895200-113895600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:113895200-113895600	Weak transcription	Stomach Mucosa	stomach
33	chr2:113895400-113895600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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