Variant report

Variant	rs7136278
Chromosome Location	chr12:1886225-1886226
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	chr12:1885765-1886231	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr12:1885664-1886234	A549	lung:	n/a	chr12:1885697-1885706
3	REST	chr12:1885359-1886365	H1-neurons	neurons:	n/a	n/a
4	GATA3	chr12:1885476-1886287	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr12:1885361-1886310	SK-N-SH	brain:	n/a	n/a
6	EP300	chr12:1885568-1886336	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr12:1885362-1886339	SK-N-SH	brain:	n/a	n/a
8	STAT3	chr12:1885479-1886277	MCF10A-Er-Src	breast:	n/a	chr12:1885785-1885792
9	POLR2A	chr12:1885658-1886263	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr12:1885531-1886254	U87	brain:	n/a	n/a
11	FOSL2	chr12:1885321-1886343	SK-N-SH	brain:	n/a	chr12:1885453-1885461 chr12:1885697-1885706 chr12:1885332-1885341
12	TCF12	chr12:1885319-1886349	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr12:1885421-1886319	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr12:1885526-1886355	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr12:1885730-1886240	SK-N-SH	brain:	n/a	n/a
16	JUND	chr12:1885568-1886318	SK-N-SH	brain:	n/a	chr12:1885697-1885706
17	JUND	chr12:1885607-1886309	SK-N-SH	brain:	n/a	chr12:1885697-1885706
18	SIN3AK20	chr12:1885550-1886375	MCF-7	breast:	n/a	n/a
19	GATA3	chr12:1885753-1886317	MCF-7	breast:	n/a	n/a
20	PBX3	chr12:1885625-1886276	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1805243..1808157-chr12:1884262..1886640,2	MCF-7	breast:
2	chr12:1884779..1887439-chr12:1888065..1890449,2	K562	blood:
3	chr12:1875185..1877560-chr12:1885723..1887474,2	MCF-7	breast:
4	chr12:1799342..1802388-chr12:1883886..1887202,3	MCF-7	breast:
5	chr12:1883679..1886349-chr12:1898971..1901942,2	MCF-7	breast:
6	chr12:1874405..1877121-chr12:1883509..1886504,3	MCF-7	breast:
7	chr12:1885828..1887529-chr12:1888844..1891201,2	K562	blood:

Variant related genes	Relation type
ADIPOR2	TF binding region
ENSG00000271500	Chromatin interaction
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1860049	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs2108398	0.87[AFR][1000 genomes]
rs2215094	1.00[TSI][hapmap]
rs2369974	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs2370054	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4766411	1.00[TSI][hapmap]
rs4766420	1.00[TSI][hapmap]
rs6489321	0.87[AFR][1000 genomes]
rs6489325	0.89[AFR][1000 genomes]
rs7133749	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7297878	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7304843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs7308757	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs758027	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs758169	0.96[AFR][1000 genomes]
rs7962777	0.93[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1038425	chr12:1857052-1902302	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
3	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
4	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
7	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
10	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:1868400-1887000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:1870200-1892600	Weak transcription	Ovary	ovary
15	chr12:1878600-1897800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:1880600-1888400	Weak transcription	Fetal Stomach	stomach
18	chr12:1880600-1892200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:1880600-1892200	Weak transcription	Gastric	stomach
20	chr12:1880600-1892200	Weak transcription	Lung	lung
21	chr12:1880600-1894600	Weak transcription	Esophagus	oesophagus
22	chr12:1881200-1889000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:1881600-1897400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:1881600-1897600	Strong transcription	Dnd41	blood
25	chr12:1881600-1897800	Strong transcription	Fetal Thymus	thymus
26	chr12:1881800-1886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:1882000-1889000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:1882000-1898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:1882400-1893000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:1882400-1896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:1882600-1886800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:1882600-1888200	Weak transcription	Thymus	Thymus
33	chr12:1882600-1888400	Weak transcription	Fetal Lung	lung
34	chr12:1882600-1889000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
36	chr12:1883000-1886800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:1883200-1886400	Enhancers	Brain Angular Gyrus	brain
38	chr12:1883200-1889200	Enhancers	NHDF-Ad	bronchial
39	chr12:1883200-1889600	Weak transcription	Placenta	Placenta
40	chr12:1883400-1889200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:1883400-1890000	Enhancers	Brain Anterior Caudate	brain
42	chr12:1883800-1886800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:1883800-1887000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:1883800-1888000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:1883800-1888800	Weak transcription	Brain Germinal Matrix	brain
46	chr12:1884000-1886800	Enhancers	Brain Substantia Nigra	brain
47	chr12:1884000-1887200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:1884000-1888200	Enhancers	Brain Hippocampus Middle	brain
49	chr12:1884600-1886400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:1884800-1887000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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