Variant report

Variant	rs10845185
Chromosome Location	chr12:10771039-10771040
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	FOS	chr12:10770947-10771402	HUVEC	blood vessel:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771158-10771169 chr12:10771159-10771169 chr12:10771160-10771168
2	FOSL2	chr12:10770979-10771266	A549	lung:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
3	FOSL1	chr12:10770844-10771365	HCT-116	colon:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
4	JUN	chr12:10770982-10771472	HUVEC	blood vessel:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
5	EP300	chr12:10770936-10771366	K562	blood:	n/a	n/a
6	MAFK	chr12:10770919-10771604	K562	blood:	n/a	chr12:10771271-10771285 chr12:10771371-10771382 chr12:10771369-10771383 chr12:10771373-10771390 chr12:10771102-10771113 chr12:10771371-10771382
7	E2F4	chr12:10771017-10771412	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr12:10770427-10771551	K562	blood:	n/a	chr12:10771160-10771169
9	MAFF	chr12:10770863-10771526	K562	blood:	n/a	n/a
10	JUN	chr12:10770989-10771553	K562	blood:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
11	FOS	chr12:10770972-10771437	MCF10A-Er-Src	breast:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771158-10771169 chr12:10771159-10771169 chr12:10771160-10771168
12	POLR2A	chr12:10770767-10771434	U87	brain:	n/a	n/a
13	FOSL2	chr12:10770861-10771528	SK-N-SH	brain:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
14	GATA3	chr12:10770721-10771512	SK-N-SH	brain:	n/a	chr12:10771158-10771165
15	TEAD4	chr12:10770931-10771380	K562	blood:	n/a	n/a
16	RCOR1	chr12:10770973-10771499	K562	blood:	n/a	n/a
17	POLR2A	chr12:10770861-10771263	HUVEC	blood vessel:	n/a	n/a
18	PBX3	chr12:10770827-10771516	SK-N-SH	brain:	n/a	chr12:10771209-10771218
19	BACH1	chr12:10770975-10771487	K562	blood:	n/a	n/a
20	POLR2A	chr12:10770748-10771443	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr12:10770992-10771546	K562	blood:	n/a	chr12:10771160-10771169
22	TCF12	chr12:10770834-10771575	SK-N-SH	brain:	n/a	n/a
23	ARID3A	chr12:10770736-10771486	K562	blood:	n/a	n/a
24	CEBPB	chr12:10770902-10771605	IMR90	lung:	n/a	n/a
25	JUND	chr12:10770797-10771522	SK-N-SH	brain:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
26	TBP	chr12:10770915-10771240	K562	blood:	n/a	n/a
27	FOS	chr12:10770944-10771447	MCF10A-Er-Src	breast:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771158-10771169 chr12:10771159-10771169 chr12:10771160-10771168
28	FOSL2	chr12:10770891-10771400	A549	lung:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
29	FOS	chr12:10770919-10771492	MCF10A-Er-Src	breast:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771158-10771169 chr12:10771159-10771169 chr12:10771160-10771168
30	MAFK	chr12:10770905-10771593	IMR90	lung:	n/a	chr12:10771271-10771285 chr12:10771371-10771382 chr12:10771369-10771383 chr12:10771373-10771390 chr12:10771102-10771113 chr12:10771371-10771382
31	PBX3	chr12:10770893-10771469	SK-N-SH	brain:	n/a	chr12:10771209-10771218
32	FOSL2	chr12:10770869-10771422	SK-N-SH	brain:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168
33	POLR2A	chr12:10770857-10771349	U87	brain:	n/a	n/a
34	POLR2A	chr12:10770948-10771330	SK-N-SH	brain:	n/a	n/a
35	JUND	chr12:10770548-10771582	K562	blood:	n/a	chr12:10771159-10771169 chr12:10771158-10771170 chr12:10771159-10771169 chr12:10771160-10771168

No.	Distal block	Cell Line	Cell type
1	chr12:10765155..10768386-chr12:10770513..10774457,4	MCF-7	breast:
2	chr12:10770924..10772839-chr12:10825568..10827149,2	MCF-7	breast:
3	chr12:10770221..10774557-chr12:10774772..10778392,5	K562	blood:

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000111196	Chromatin interaction
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10083164	0.83[JPT][hapmap]
rs1026442	0.83[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs10431297	0.82[JPT][hapmap]
rs1054396	1.00[JPT][hapmap]
rs1073305	0.82[JPT][hapmap]
rs10743911	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772334	1.00[JPT][hapmap]
rs10772340	0.82[JPT][hapmap]
rs10772343	0.81[JPT][hapmap]
rs10772347	0.82[JPT][hapmap]
rs10845180	0.86[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10845181	0.82[JPT][hapmap]
rs10845184	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845192	0.82[JPT][hapmap]
rs10845194	0.81[JPT][hapmap]
rs10845195	0.82[JPT][hapmap]
rs10845197	0.80[JPT][hapmap]
rs10845198	0.82[JPT][hapmap]
rs11053877	1.00[JPT][hapmap]
rs11053880	0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs11053881	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11053882	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12306757	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12306815	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12811247	1.00[JPT][hapmap]
rs1870194	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2125091	0.94[JPT][hapmap]
rs2219382	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2290718	1.00[JPT][hapmap]
rs2305853	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs2418087	0.82[JPT][hapmap]
rs2418088	0.82[JPT][hapmap]
rs2900513	0.82[JPT][hapmap]
rs3759264	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759265	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs3782674	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488316	0.82[JPT][hapmap]
rs7312261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7313620	0.81[JPT][hapmap]
rs7350557	0.82[JPT][hapmap]
rs7350597	0.82[JPT][hapmap]
rs755498	0.96[ASN][1000 genomes]
rs7968284	0.82[JPT][hapmap]
rs7971142	0.82[JPT][hapmap]
rs897880	0.92[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs897882	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9988929	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
6	chr12:10767000-10772400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:10767000-10772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
9	chr12:10767200-10771200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:10767200-10772000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:10767200-10772200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:10767200-10775000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:10767400-10772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:10767600-10776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:10769600-10772400	Enhancers	NHDF-Ad	bronchial
18	chr12:10770000-10772000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:10770000-10772400	Enhancers	HSMM	muscle
20	chr12:10770200-10771600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:10770200-10772000	Enhancers	NHEK	skin
22	chr12:10770200-10772400	Enhancers	HMEC	breast
23	chr12:10770200-10773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:10770200-10774600	Enhancers	HSMMtube	muscle
25	chr12:10770400-10771600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:10770400-10771600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:10770400-10771600	Enhancers	A549	lung
28	chr12:10770400-10771600	Enhancers	K562	blood
29	chr12:10770400-10771800	Genic enhancers	HUVEC	blood vessel
30	chr12:10770400-10771800	Enhancers	Osteobl	bone
31	chr12:10770400-10772000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:10770600-10771200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:10770600-10771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:10770600-10771600	Enhancers	NH-A	brain
35	chr12:10770600-10771800	Enhancers	NHLF	lung
36	chr12:10770600-10773000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:10770600-10777600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:10770800-10771200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:10771000-10772000	Enhancers	Muscle Satellite Cultured Cells	--

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