Variant report

Variant	rs372775192
Chromosome Location	chr12:1908065-1908066
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	YY1	chr12:1908058-1908384	K562	blood:	n/a	chr12:1908254-1908276 chr12:1908259-1908278 chr12:1908265-1908273
2	CTCF	chr12:1907980-1908130	GM06990	blood:	n/a	chr12:1907983-1908001 chr12:1907990-1907997
3	POLR2A	chr12:1907888-1908187	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CACNA2D4	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:37 , 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	chr12:1905800-1913400	Weak transcription	HepG2	liver
3	chr12:1906000-1910000	Weak transcription	HSMM	muscle
4	chr12:1906400-1909800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:1906400-1910400	Weak transcription	NH-A	brain
6	chr12:1906400-1913800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:1906400-1913800	Weak transcription	Fetal Brain Male	brain
8	chr12:1906600-1909800	Weak transcription	Osteobl	bone
9	chr12:1906600-1910000	Weak transcription	Fetal Brain Female	brain
10	chr12:1906600-1910400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:1906600-1913600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:1906600-1913800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:1906800-1909200	Weak transcription	NHDF-Ad	bronchial
14	chr12:1906800-1910000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:1906800-1912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:1906800-1913800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:1906800-1913800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:1906800-1913800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:1906800-1914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:1906800-1914000	Weak transcription	Right Atrium	heart
21	chr12:1906800-1915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:1907000-1913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:1907200-1909200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:1907200-1909600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:1907200-1909600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:1907200-1910200	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:1907200-1913000	Weak transcription	Right Ventricle	heart
28	chr12:1907200-1913400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:1907200-1913800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:1907200-1913800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:1907600-1913600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:1907800-1909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:1907800-1909400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:1907800-1912800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:1907800-1913800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:1908000-1908200	Enhancers	Spleen	Spleen
37	chr12:1908000-1910400	Enhancers	Fetal Heart	heart

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