Variant report

Variant	rs4669465
Chromosome Location	chr2:9936904-9936905
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
2	chr2:9936599..9939944-chr2:10182604..10184557,3	MCF-7	breast:
3	chr2:9936512..9939080-chr2:9983882..9985731,2	MCF-7	breast:
4	chr2:9935347..9937450-chr2:10187090..10189085,2	K562	blood:
5	chr2:9932066..9933964-chr2:9935822..9938951,3	MCF-7	breast:
6	chr2:9930227..9931961-chr2:9935791..9937908,2	K562	blood:
7	chr2:9933790..9936191-chr2:9936744..9939600,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10495567	1.00[CHB][hapmap]
rs11676974	1.00[CHB][hapmap]
rs12611658	0.83[EUR][1000 genomes]
rs1515325	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2049431	1.00[CHB][hapmap]
rs2357268	0.83[EUR][1000 genomes]
rs4669463	0.81[EUR][1000 genomes]
rs4669466	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6726339	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559653	1.00[JPT][hapmap]
rs869970	0.83[EUR][1000 genomes]
rs869971	0.82[EUR][1000 genomes]
rs908292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 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	chr2:9932600-9938400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:9933000-9939200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:9933000-9939400	Weak transcription	Right Ventricle	heart
4	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
5	chr2:9933600-9938400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:9934000-9938000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:9934000-9938800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:9934000-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:9934000-9939600	Weak transcription	Right Atrium	heart
10	chr2:9934200-9938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:9934200-9938600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:9934200-9938800	Weak transcription	Lung	lung
13	chr2:9934200-9938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:9934200-9939000	Weak transcription	Spleen	Spleen
15	chr2:9934200-9941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:9934200-9941600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:9934400-9938400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:9934400-9938600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:9934400-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:9934600-9939000	Weak transcription	GM12878-XiMat	blood
21	chr2:9934800-9937800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:9935600-9937800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:9935800-9937200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:9935800-9939600	Weak transcription	Pancreas	Pancrea
25	chr2:9936000-9939400	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:9936000-9939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:9936400-9937400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:9936400-9938600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:9936400-9939200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:9936400-9939400	Enhancers	Placenta	Placenta
31	chr2:9936600-9937000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:9936600-9937000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:9936600-9937200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:9936600-9937800	Bivalent Enhancer	HepG2	liver
35	chr2:9936600-9938200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:9936600-9939600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:9936600-9943800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:9936800-9937000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:9936800-9937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:9936800-9937600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:9936800-9938400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:9936800-9939600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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