Variant report

Variant	rs1004941
Chromosome Location	chr5:92933534-92933535
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:77590309..77590978-chr5:92932828..92933802,2	Hela-S3	cervix:
2	chr5:92933083..92935901-chr5:92946824..92949229,2	MCF-7	breast:
3	chr5:92933301..92936219-chr5:93128052..93129645,2	MCF-7	breast:
4	chr5:92918931..92920737-chr5:92932516..92934451,3	MCF-7	breast:
5	chr5:92931819..92934085-chr5:92938375..92940060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175745	Chromatin interaction
ENSG00000132842	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1046217	0.93[CEU][hapmap];0.88[JPT][hapmap]
rs10514376	0.93[CEU][hapmap];0.86[JPT][hapmap]
rs11959119	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12186878	0.86[CEU][hapmap]
rs17083278	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs1844343	0.86[JPT][hapmap]
rs2279473	0.94[EUR][1000 genomes]
rs3776601	0.86[JPT][hapmap]
rs6556829	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs6884138	0.93[CEU][hapmap];0.86[JPT][hapmap]
rs7712388	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs7721168	0.93[CEU][hapmap];0.86[JPT][hapmap]
rs7721509	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7736624	0.93[CEU][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv1837322	chr5:92919821-92933747	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92922200-92934200	Weak transcription	HSMMtube	muscle
2	chr5:92924200-92935000	Weak transcription	Gastric	stomach
3	chr5:92927000-92934600	Weak transcription	HUVEC	blood vessel
4	chr5:92929600-92937800	Weak transcription	Right Atrium	heart
5	chr5:92930600-92934000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:92930600-92934600	Weak transcription	Fetal Kidney	kidney
7	chr5:92931000-92934200	Weak transcription	Pancreas	Pancrea
8	chr5:92931200-92936000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:92931600-92935200	Weak transcription	Ovary	ovary
10	chr5:92931800-92933800	Weak transcription	NH-A	brain
11	chr5:92932200-92933800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:92932200-92933800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr5:92932400-92933600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:92932600-92933600	Bivalent Enhancer	Esophagus	oesophagus
15	chr5:92932600-92933600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr5:92932600-92934400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:92932600-92935000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:92932600-92935400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr5:92932800-92933600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr5:92932800-92937800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:92932800-92938200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:92933000-92933600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr5:92933000-92933600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr5:92933000-92934200	Bivalent Enhancer	Placenta	Placenta
25	chr5:92933000-92934400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:92933000-92934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:92933000-92937000	Flanking Active TSS	Hela-S3	cervix
28	chr5:92933200-92933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:92933200-92933800	Enhancers	NHLF	lung
30	chr5:92933200-92934000	Bivalent Enhancer	Fetal Brain Female	brain
31	chr5:92933200-92934200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:92933200-92934600	Enhancers	HepG2	liver
33	chr5:92933200-92935200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr5:92933400-92933600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:92933400-92933600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
36	chr5:92933400-92933600	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr5:92933400-92933600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
38	chr5:92933400-92933800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:92933400-92934200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:92933400-92934200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr5:92933400-92934200	Bivalent Enhancer	Brain Germinal Matrix	brain
42	chr5:92933400-92935000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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