Variant report

Variant	rs530019284
Chromosome Location	chr12:1880366-1880367
allele	-/GTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:1880270-1880415	MCF-7	breast:	n/a	n/a
2	CTCF	chr12:1880289-1880397	GM19239	blood:	n/a	n/a
3	POLR2A	chr12:1880215-1880506	A549	lung:	n/a	n/a
4	MYC	chr12:1880254-1880405	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:1880275-1880509	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:1880297-1880384	Fibrobl	skin:	n/a	n/a
7	POLR2A	chr12:1880238-1880456	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:1880352-1880405	Gliobla	brain:	n/a	n/a
9	POLR2A	chr12:1880179-1880584	HepG2	liver:	n/a	n/a
10	MYC	chr12:1880303-1880440	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:1880167-1880466	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:1880200-1880508	MCF-7	breast:	n/a	n/a
13	POLR2A	chr12:1880133-1880551	HL-60	blood:	n/a	n/a
14	MYC	chr12:1880236-1880449	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1769575..1772464-chr12:1879364..1881156,2	MCF-7	breast:
2	chr12:1877224..1880546-chr12:1949279..1951143,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADIPOR2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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
7	nsv973980	chr12:1879789-1884543	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
6	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
8	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
9	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
12	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:1864800-1882200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:1866800-1883000	Weak transcription	Fetal Heart	heart
17	chr12:1867000-1882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:1867000-1882000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:1867200-1880400	Weak transcription	Fetal Intestine Large	intestine
21	chr12:1867200-1882000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:1867200-1882000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:1867200-1882000	Weak transcription	Thymus	Thymus
24	chr12:1867200-1883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1867200-1885600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
28	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:1867600-1882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:1867600-1882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:1867600-1882000	Weak transcription	Placenta	Placenta
32	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:1867800-1885000	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:1868200-1882000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:1868400-1882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:1868400-1887000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:1868800-1885000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:1869000-1882000	Weak transcription	Fetal Lung	lung
40	chr12:1869000-1883000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:1869000-1884600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:1869200-1884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:1870000-1882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:1870000-1882000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:1870200-1892600	Weak transcription	Ovary	ovary
46	chr12:1870600-1882000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:1870600-1882000	Weak transcription	HUVEC	blood vessel
48	chr12:1870800-1883200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:1871000-1885400	Weak transcription	HSMMtube	muscle
50	chr12:1871400-1882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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