Variant report

Variant	rs4288115
Chromosome Location	chr5:17249656-17249657
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17213412..17218667-chr5:17245448..17250962,7	MCF-7	breast:
2	chr5:17248445..17250373-chr5:17251254..17254017,2	MCF-7	breast:
3	chr5:17249553..17251218-chr5:17254140..17256809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215196	Chromatin interaction
ENSG00000176788	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1105298	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162280	0.85[LWK][hapmap]
rs192723	1.00[YRI][hapmap]
rs2242415	0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs2291236	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs298556	1.00[YRI][hapmap]
rs62348040	0.83[ASN][1000 genomes]
rs7733967	0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7736809	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17229000-17258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:17229800-17261600	Weak transcription	Fetal Stomach	stomach
3	chr5:17232000-17259200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:17232400-17254400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:17232800-17251400	Weak transcription	GM12878-XiMat	blood
6	chr5:17232800-17255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:17232800-17260000	Weak transcription	Fetal Kidney	kidney
8	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:17233000-17255600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:17236200-17251600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:17236200-17251800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:17242000-17257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:17242200-17253800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:17242200-17255600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:17242400-17254400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:17242400-17255600	Weak transcription	Fetal Lung	lung
17	chr5:17242600-17253600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:17242800-17258000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:17242800-17275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:17244600-17253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:17244800-17274600	Weak transcription	Ovary	ovary
22	chr5:17246800-17251800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:17247000-17250800	Enhancers	NHDF-Ad	bronchial
24	chr5:17247200-17250200	Enhancers	NHLF	lung
25	chr5:17247400-17252000	Enhancers	HUVEC	blood vessel
26	chr5:17247600-17250400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:17247600-17250400	Enhancers	HMEC	breast
28	chr5:17247600-17250600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:17247600-17251600	Weak transcription	Primary B cells from cord blood	blood
30	chr5:17247600-17251600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:17247800-17250200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:17247800-17250400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:17248000-17250200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:17248000-17250200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:17248000-17258000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:17248200-17249800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:17248200-17250400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:17248200-17250400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:17248200-17250600	Enhancers	NH-A	brain
40	chr5:17248200-17251600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:17248200-17257800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:17248400-17251600	Weak transcription	Brain Germinal Matrix	brain
43	chr5:17248400-17251600	Weak transcription	Fetal Brain Male	brain
44	chr5:17248800-17250400	Enhancers	HSMM	muscle
45	chr5:17248800-17250600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:17249000-17250200	Enhancers	Placenta	Placenta
47	chr5:17249200-17251600	Weak transcription	Fetal Brain Female	brain
48	chr5:17249200-17254400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:17249400-17249800	Enhancers	Hela-S3	cervix
50	chr5:17249400-17250200	Enhancers	Osteobl	bone

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