Variant report

Variant	rs553560963
Chromosome Location	chr12:1916970-1916971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1912567..1917043-chr12:1917472..1921043,5	K562	blood:
2	chr12:1915615..1917986-chr12:1924786..1926838,2	K562	blood:

Variant related genes	Relation type
ENSG00000151062	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:43 , 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	chr12:1912800-1917000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:1913400-1917000	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:1913800-1917000	Enhancers	Fetal Intestine Large	intestine
7	chr12:1913800-1917600	Enhancers	Placenta	Placenta
8	chr12:1913800-1918800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:1913800-1920000	Enhancers	Fetal Thymus	thymus
10	chr12:1913800-1920400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:1914000-1917600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:1914000-1917600	Enhancers	Fetal Intestine Small	intestine
13	chr12:1914000-1920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:1914200-1918400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:1914200-1918600	Weak transcription	K562	blood
16	chr12:1914200-1919600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:1914200-1919800	Weak transcription	Primary T cells from cord blood	blood
18	chr12:1914200-1920000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:1914200-1920600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:1914400-1917400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:1914400-1918800	Weak transcription	Brain Germinal Matrix	brain
22	chr12:1914400-1919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:1914400-1919800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:1914400-1920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:1914600-1917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:1915200-1917800	Weak transcription	Spleen	Spleen
27	chr12:1915200-1919600	Weak transcription	Lung	lung
28	chr12:1915600-1917600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:1915600-1917800	Enhancers	Fetal Brain Male	brain
30	chr12:1915600-1920600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:1916000-1919200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:1916000-1919800	Weak transcription	NHDF-Ad	bronchial
33	chr12:1916000-1921200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:1916000-1921600	Weak transcription	HSMM	muscle
35	chr12:1916200-1918000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:1916200-1918200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:1916200-1918400	Weak transcription	Left Ventricle	heart
38	chr12:1916400-1917000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:1916600-1917000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:1916600-1917600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:1916600-1918800	Enhancers	HepG2	liver
42	chr12:1916800-1917000	Enhancers	Right Ventricle	heart
43	chr12:1916800-1919000	Weak transcription	Fetal Muscle Leg	muscle

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