Variant report

Variant	rs315938
Chromosome Location	chr2:113896045-113896046
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113895446..113896605-chr2:113950024..113950747,3	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	chr2:113895658..113897096-chr2:114147534..114148565,6	K562	blood:
6	chr2:113895417..113899830-chr2:113913287..113915798,5	MCF-7	breast:
7	chr2:113895680..113896559-chr2:113949788..113950725,3	MCF-7	breast:
8	chr2:113895616..113896425-chr3:173120480..173120980,2	MCF-7	breast:
9	chr2:113895343..113896160-chr2:113957461..113958420,2	MCF-7	breast:
10	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
11	chr2:113892912..113896093-chr2:113955457..113958866,4	MCF-7	breast:
12	chr2:113895735..113898572-chr2:113925018..113926554,2	K562	blood:
13	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:
14	chr2:113895684..113896622-chr2:113956462..113957445,3	MCF-7	breast:

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1586815	1.00[EUR][1000 genomes]
rs1794067	0.83[YRI][hapmap]
rs2172189	1.00[EUR][1000 genomes]
rs2248588	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2248596	0.82[LWK][hapmap];0.90[MKK][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2248600	0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248604	0.89[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254511	0.83[YRI][hapmap]
rs2853628	0.81[YRI][hapmap]
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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315936	0.83[YRI][hapmap]
rs315937	1.00[EUR][1000 genomes]
rs315939	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs315940	1.00[ASW][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315941	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315944	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315950	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs315955	1.00[EUR][1000 genomes]
rs4848315	0.87[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: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	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 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	chr2:113891800-113896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:113892000-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:113892000-113896200	Weak transcription	NHEK	skin
9	chr2:113892200-113896200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:113892200-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:113892200-113896200	Weak transcription	Liver	Liver
12	chr2:113892200-113896200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:113892200-113896600	Weak transcription	Esophagus	oesophagus
14	chr2:113893200-113896200	Weak transcription	Thymus	Thymus
15	chr2:113894000-113896200	Enhancers	HepG2	liver
16	chr2:113894200-113897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:113894600-113896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113894800-113896200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:113894800-113896200	Weak transcription	Fetal Thymus	thymus
20	chr2:113894800-113896800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:113895000-113896200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:113895000-113902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:113895600-113896200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:113895600-113897000	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:113895600-113897200	Enhancers	Stomach Mucosa	stomach
26	chr2:113895600-113897400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:113895800-113896200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:113895800-113896200	Enhancers	Fetal Intestine Large	intestine
29	chr2:113895800-113896200	Enhancers	Fetal Intestine Small	intestine
30	chr2:113895800-113897000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:113895800-113897000	Enhancers	Primary T cells from cord blood	blood
32	chr2:113895800-113897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:113896000-113896200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:113896000-113896200	Enhancers	A549	lung
35	chr2:113896000-113896400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:113896000-113896600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:113896000-113896600	Enhancers	Primary B cells from cord blood	blood
38	chr2:113896000-113896800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:113896000-113896800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:113896000-113897000	Enhancers	HMEC	breast

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