Variant report

Variant	rs73043818
Chromosome Location	chr12:1913492-1913493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:1913194-1914586	Hela-S3	cervix:	n/a	n/a
2	YY1	chr12:1913405-1914080	SK-N-SH_RA	brain:	n/a	n/a
3	YY1	chr12:1913442-1914114	GM12878	blood:	n/a	n/a
4	GABPA	chr12:1913381-1914313	MCF-7	breast:	n/a	n/a
5	YY1	chr12:1913462-1914076	SK-N-SH	brain:	n/a	n/a
6	YY1	chr12:1913461-1914028	NT2-D1	testis:	n/a	n/a
7	ELF1	chr12:1913400-1914342	HCT-116	colon:	n/a	chr12:1913868-1913881
8	MAX	chr12:1913464-1914283	A549	lung:	n/a	chr12:1913782-1913792
9	SIX5	chr12:1913444-1914247	A549	lung:	n/a	n/a
10	YY1	chr12:1913461-1914089	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr12:1913474-1914235	HCT-116	colon:	n/a	chr12:1913782-1913792
12	YY1	chr12:1913444-1914121	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr12:1913366-1914264	SK-N-SH	brain:	n/a	n/a
14	YY1	chr12:1913451-1914058	ECC-1	luminal epithelium:	n/a	n/a
15	HCFC1	chr12:1913448-1914102	K562	blood:	n/a	n/a
16	MAX	chr12:1913471-1914130	A549	lung:	n/a	chr12:1913782-1913792
17	YY1	chr12:1913468-1914018	A549	lung:	n/a	n/a
18	GABPA	chr12:1913460-1914228	A549	lung:	n/a	n/a
19	SREBP1	chr12:1913349-1914329	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1911026..1914378-chr12:2033211..2036733,3	MCF-7	breast:
2	chr12:1912567..1917043-chr12:1917472..1921043,5	K562	blood:
3	chr12:1912567..1914410-chr12:1917472..1919007,2	K562	blood:
4	chr12:1905333..1905883-chr12:1912952..1913884,2	K562	blood:
5	chr12:1905522..1910417-chr12:1912711..1915784,4	K562	blood:

No data

Variant related genes	Relation type
CACNA2D4	TF binding region
ENSG00000151062	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11061994	1.00[ASN][1000 genomes]
rs11061995	1.00[ASN][1000 genomes]
rs11611260	1.00[ASN][1000 genomes]
rs11611941	1.00[ASN][1000 genomes]
rs73041886	1.00[ASN][1000 genomes]
rs73041888	1.00[ASN][1000 genomes]
rs7958636	1.00[ASN][1000 genomes]
rs7961753	1.00[ASN][1000 genomes]
rs7961866	1.00[ASN][1000 genomes]

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:44 , 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	chr12:1906400-1913800	Weak transcription	Brain Angular Gyrus	brain
3	chr12:1906400-1913800	Weak transcription	Fetal Brain Male	brain
4	chr12:1906600-1913600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:1906600-1913800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:1906800-1913800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:1906800-1913800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:1906800-1913800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:1906800-1914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:1906800-1914000	Weak transcription	Right Atrium	heart
11	chr12:1906800-1915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:1907000-1913800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:1907200-1913800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:1907200-1913800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:1907600-1913600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:1907800-1913800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:1910000-1916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:1910000-1916400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:1910400-1913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:1910400-1913800	Weak transcription	Brain Germinal Matrix	brain
21	chr12:1910400-1913800	Weak transcription	Fetal Brain Female	brain
22	chr12:1910400-1914000	Weak transcription	Fetal Heart	heart
23	chr12:1910800-1913600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:1910800-1915000	Weak transcription	HSMMtube	muscle
25	chr12:1910800-1920000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:1911000-1913800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:1911000-1913800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:1911200-1915400	Weak transcription	HSMM	muscle
29	chr12:1911400-1913600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:1911600-1919200	Weak transcription	Osteobl	bone
31	chr12:1911800-1913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:1912000-1914000	Weak transcription	Spleen	Spleen
33	chr12:1912800-1914600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:1912800-1917000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:1913000-1914000	Weak transcription	Fetal Intestine Small	intestine
36	chr12:1913200-1913600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:1913200-1913800	Weak transcription	Right Ventricle	heart
38	chr12:1913200-1916200	Enhancers	Left Ventricle	heart
39	chr12:1913400-1913600	Enhancers	NHDF-Ad	bronchial
40	chr12:1913400-1913800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:1913400-1913800	Active TSS	Hela-S3	cervix
42	chr12:1913400-1914000	Active TSS	Colonic Mucosa	Colon
43	chr12:1913400-1914400	Enhancers	HepG2	liver
44	chr12:1913400-1917000	Enhancers	Duodenum Mucosa	Duodenum

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