Variant report

Variant	rs17137963
Chromosome Location	chr5:114875830-114875831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114872131..114874195-chr5:114874384..114876871,2	MCF-7	breast:
2	chr5:114870046..114871711-chr5:114873556..114876513,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12110084	1.00[AFR][1000 genomes]
rs12110088	1.00[AFR][1000 genomes]
rs17137912	1.00[AFR][1000 genomes]
rs17137932	1.00[AFR][1000 genomes]
rs17137960	1.00[AFR][1000 genomes]
rs58631560	1.00[AFR][1000 genomes]
rs59021008	1.00[AFR][1000 genomes]
rs61471519	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv965571	chr5:114874943-114878934	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
4	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
5	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
6	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
8	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
9	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:114863600-114878600	Weak transcription	Gastric	stomach
11	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:114869200-114876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:114870000-114876200	Strong transcription	Fetal Thymus	thymus
14	chr5:114870000-114877400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:114871000-114876400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:114871200-114879200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:114871600-114876600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:114871800-114876000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:114872200-114877400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:114872400-114876200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:114872400-114876600	Weak transcription	HSMMtube	muscle
22	chr5:114872400-114877000	Enhancers	Colon Smooth Muscle	Colon
23	chr5:114872600-114879400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
24	chr5:114872800-114876400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:114873200-114876600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:114873400-114877200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:114873800-114876000	Enhancers	Fetal Intestine Small	intestine
28	chr5:114873800-114876200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:114873800-114877400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:114874000-114876000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:114874000-114876000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:114874000-114876000	Enhancers	Small Intestine	intestine
33	chr5:114874000-114876000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr5:114874000-114876600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr5:114874000-114877000	Genic enhancers	Hela-S3	cervix
36	chr5:114874000-114878000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:114874000-114878200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:114874000-114879200	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr5:114874200-114876000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:114874400-114876000	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:114874400-114876200	Enhancers	Liver	Liver
43	chr5:114874400-114876400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:114874400-114878000	Weak transcription	Stomach Mucosa	stomach
45	chr5:114874400-114878800	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:114874600-114876000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:114874600-114876000	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr5:114874600-114876000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr5:114874600-114876000	Weak transcription	NHEK	skin
50	chr5:114874600-114878800	Active TSS	Right Ventricle	heart

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