Variant report

Variant	rs9312949
Chromosome Location	chr5:17255699-17255700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17229249..17231794-chr5:17254267..17256723,2	MCF-7	breast:
2	chr5:17254488..17256059-chr5:17305370..17307654,2	MCF-7	breast:
3	chr5:17255104..17256658-chr5:17257028..17259986,2	MCF-7	breast:
4	chr5:17249553..17251218-chr5:17254140..17256809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185296	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10068662	1.00[AMR][1000 genomes]
rs10076610	1.00[AMR][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:68 , 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	chr5:17232800-17260000	Weak transcription	Fetal Kidney	kidney
5	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:17242000-17257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:17242800-17258000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:17242800-17275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:17244800-17274600	Weak transcription	Ovary	ovary
10	chr5:17248000-17258000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:17248200-17257800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:17249400-17257800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:17249400-17275200	Weak transcription	Aorta	Aorta
14	chr5:17251400-17255800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:17252800-17256600	Genic enhancers	Hela-S3	cervix
16	chr5:17252800-17257200	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:17252800-17257200	Genic enhancers	A549	lung
18	chr5:17252800-17260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:17252800-17271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:17253000-17258000	Weak transcription	Brain Germinal Matrix	brain
21	chr5:17253200-17258200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:17253400-17257600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:17253600-17256000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:17253600-17256000	Weak transcription	Placenta	Placenta
25	chr5:17253800-17256400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:17253800-17256400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:17253800-17258000	Weak transcription	Gastric	stomach
28	chr5:17254200-17259600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:17254400-17256000	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:17254400-17256400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:17254400-17256600	Enhancers	NHLF	lung
32	chr5:17254400-17257600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:17254400-17257600	Strong transcription	NHEK	skin
34	chr5:17254400-17259000	Genic enhancers	Osteobl	bone
35	chr5:17254800-17255800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:17255000-17256200	Enhancers	HMEC	breast
37	chr5:17255000-17256400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:17255000-17256400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:17255000-17256400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:17255000-17256600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:17255000-17259200	Enhancers	HUVEC	blood vessel
42	chr5:17255000-17259200	Enhancers	NHDF-Ad	bronchial
43	chr5:17255200-17256200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr5:17255200-17256800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr5:17255200-17259400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:17255400-17256200	Flanking Active TSS	GM12878-XiMat	blood
47	chr5:17255400-17256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:17255600-17255800	Genic enhancers	H1 Cell Line	embryonic stem cell
49	chr5:17255600-17255800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:17255600-17255800	Genic enhancers	Fetal Brain Female	brain

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