Variant report

Variant	rs10054788
Chromosome Location	chr5:17261729-17261730
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17238715..17240900-chr5:17259228..17262117,2	K562	blood:
2	chr5:17216648..17219265-chr5:17260577..17262332,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176788	Chromatin interaction
ENSG00000252908	Chromatin interaction
ENSG00000215196	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10065005	0.98[EUR][1000 genomes]
rs1500508	0.80[EUR][1000 genomes]
rs62348043	0.80[EUR][1000 genomes]
rs62348044	0.81[EUR][1000 genomes]

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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17242800-17275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:17244800-17274600	Weak transcription	Ovary	ovary
4	chr5:17249400-17275200	Weak transcription	Aorta	Aorta
5	chr5:17252800-17271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:17256200-17279800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:17256400-17274600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:17256600-17275200	Weak transcription	Placenta	Placenta
9	chr5:17258200-17274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:17258400-17262200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:17259000-17263600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:17259000-17263600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:17259000-17274600	Weak transcription	HSMMtube	muscle
14	chr5:17259000-17274800	Weak transcription	Osteobl	bone
15	chr5:17259000-17275800	Weak transcription	HMEC	breast
16	chr5:17259000-17276000	Weak transcription	HSMM	muscle
17	chr5:17259200-17262200	Strong transcription	Hela-S3	cervix
18	chr5:17259200-17274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:17259200-17274600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:17259200-17275000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:17259200-17275200	Weak transcription	HUVEC	blood vessel
22	chr5:17259200-17275800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:17259400-17263600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:17259600-17274600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:17259800-17262000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:17259800-17262200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:17259800-17262600	Strong transcription	NHLF	lung
28	chr5:17259800-17275200	Genic enhancers	A549	lung
29	chr5:17260000-17263400	Weak transcription	NH-A	brain
30	chr5:17260000-17265200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:17260000-17275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:17260200-17261800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:17260200-17274400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:17260200-17274600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:17260400-17264000	Weak transcription	Brain Germinal Matrix	brain
36	chr5:17260400-17265200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:17260400-17265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:17260400-17266000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:17260800-17263000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:17260800-17263600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:17261000-17262200	Genic enhancers	Primary B cells from cord blood	blood
42	chr5:17261000-17263400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:17261000-17263600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:17261000-17265200	Weak transcription	Fetal Brain Female	brain
45	chr5:17261200-17261800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:17261200-17261800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:17261200-17261800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:17261200-17262000	Strong transcription	NHEK	skin
49	chr5:17261200-17262600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:17261400-17261800	Enhancers	Fetal Lung	lung

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