Variant report

Variant	rs533393559
Chromosome Location	chr12:1918854-1918855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1912567..1914410-chr12:1917472..1919007,2	K562	blood:
2	chr12:1690585..1692934-chr12:1917638..1919676,2	K562	blood:
3	chr12:1918012..1920353-chr12:1939627..1941633,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv430442	chr12:1889823-1982151	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv556996	chr12:1891372-1934920	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1824001	chr12:1896738-1951940	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv898592	chr12:1901485-1937801	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv898593	chr12:1901485-1962759	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv468965	chr12:1907853-1931396	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556997	chr12:1907853-1931396	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv468966	chr12:1907853-1933553	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv556998	chr12:1907853-1933553	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv470259	chr12:1907853-1945042	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv518013	chr12:1914273-1952990	Weak transcription Bivalent Enhancer Enhancers 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	9 gene(s)	inside rSNPs	diseases
15	nsv898594	chr12:1916838-1952990	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv898595	chr12:1916838-1962759	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv3436457	chr12:1917791-1921989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3407004	chr12:1918741-1921239	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3430126	chr12:1918830-1919126	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1905600-1928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1910800-1920000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:1911600-1919200	Weak transcription	Osteobl	bone
4	chr12:1913800-1920000	Enhancers	Fetal Thymus	thymus
5	chr12:1913800-1920400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:1914000-1920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:1914200-1919600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1914200-1919800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:1914200-1920000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:1914200-1920600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:1914400-1919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:1914400-1919800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:1914400-1920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:1915200-1919600	Weak transcription	Lung	lung
15	chr12:1915600-1920600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:1916000-1919200	Weak transcription	Adipose Nuclei	Adipose
17	chr12:1916000-1919800	Weak transcription	NHDF-Ad	bronchial
18	chr12:1916000-1921200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:1916000-1921600	Weak transcription	HSMM	muscle
20	chr12:1916800-1919000	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:1917000-1919600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:1917000-1919600	Weak transcription	Right Ventricle	heart
23	chr12:1917000-1919800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:1917000-1920600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:1917000-1923000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:1917600-1920200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:1917600-1920800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:1917800-1919600	Enhancers	Spleen	Spleen
29	chr12:1917800-1921400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:1918000-1921200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:1918200-1924000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:1918400-1919000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:1918400-1919600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:1918600-1920000	Enhancers	K562	blood
35	chr12:1918600-1920400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:1918800-1919800	Enhancers	Placenta	Placenta
37	chr12:1918800-1920000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:1918800-1920400	Flanking Active TSS	HepG2	liver
39	chr12:1918800-1921200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:1918800-1924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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