Variant report

Variant	rs12288048
Chromosome Location	chr11:67011765-67011766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:67011217-67011842	ECC-1	luminal epithelium:	n/a	chr11:67011511-67011520
2	POLR2A	chr11:67011447-67012211	GM12878	blood:	n/a	n/a
3	TEAD4	chr11:67011395-67011804	ECC-1	luminal epithelium:	n/a	chr11:67011511-67011520
4	POLR2A	chr11:67011423-67012292	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66823467..66825638-chr11:67011327..67013483,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10896166	1.00[EUR][1000 genomes]
rs10896172	0.86[MEX][hapmap]
rs11227756	0.87[GIH][hapmap]
rs11819783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11819880	0.86[CHB][hapmap]
rs12788405	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790040	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12791853	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12805811	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs1419861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1558257	0.82[JPT][hapmap];0.86[MEX][hapmap]
rs1638569	0.82[EUR][1000 genomes]
rs1790731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1790735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1790737	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs1790738	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs1790739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1790762	0.82[EUR][1000 genomes]
rs1894112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1944096	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2071007	0.87[GIH][hapmap]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs2429463	0.82[EUR][1000 genomes]
rs2511057	0.82[EUR][1000 genomes]
rs2514257	0.82[EUR][1000 genomes]
rs2532605	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs34087937	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs35247976	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821109	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs35992831	0.84[ASN][1000 genomes]
rs36085596	0.85[ASN][1000 genomes]
rs3737460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4542419	0.87[GIH][hapmap]
rs4930192	0.88[MEX][hapmap]
rs4930418	0.88[MEX][hapmap]
rs59551907	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66466718	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66603590	0.84[ASN][1000 genomes]
rs7394531	0.82[EUR][1000 genomes]
rs7934433	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs867193	0.82[EUR][1000 genomes]
rs9326373	0.82[EUR][1000 genomes]
rs9734588	0.82[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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67008400-67012000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr11:67009000-67012400	Weak transcription	Ovary	ovary
3	chr11:67009000-67012600	Weak transcription	Aorta	Aorta
4	chr11:67009200-67012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67009200-67012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:67009400-67012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
9	chr11:67010000-67012200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr11:67010000-67015400	Strong transcription	NHLF	lung
11	chr11:67010000-67018400	Genic enhancers	Placenta	Placenta
12	chr11:67010000-67020200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:67010000-67025000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:67010000-67026600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:67010200-67012000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:67010200-67012800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:67010200-67014200	Strong transcription	NHDF-Ad	bronchial
18	chr11:67010200-67015000	Strong transcription	Lung	lung
19	chr11:67010200-67018800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
30	chr11:67010400-67011800	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:67010400-67011800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:67010400-67012000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:67010400-67012200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:67010400-67015200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:67010400-67019000	Strong transcription	Primary hematopoietic stem cells	blood
36	chr11:67010400-67020200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
38	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
39	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
41	chr11:67010400-67025000	Strong transcription	NH-A	brain
42	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:67010600-67012000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:67010600-67012000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:67010600-67012000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:67010600-67012000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:67010600-67012000	Weak transcription	Esophagus	oesophagus
48	chr11:67010600-67012000	Strong transcription	Fetal Lung	lung
49	chr11:67010600-67012200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:67010600-67012200	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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