Variant report

Variant	rs73043822
Chromosome Location	chr12:1914066-1914067
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	GABPA	chr12:1913590-1914199	SK-N-SH	brain:	n/a	n/a
2	HCFC1	chr12:1913194-1914586	Hela-S3	cervix:	n/a	n/a
3	ELF1	chr12:1913539-1914291	HCT-116	colon:	n/a	chr12:1913868-1913881
4	POLR2A	chr12:1913710-1914124	HCT-116	colon:	n/a	n/a
5	YY1	chr12:1913405-1914080	SK-N-SH_RA	brain:	n/a	n/a
6	REST	chr12:1913710-1914187	A549	lung:	n/a	n/a
7	POLR2A	chr12:1913676-1914109	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:1913621-1914259	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr12:1913573-1914122	MCF-7	breast:	n/a	chr12:1913782-1913792
10	SIX5	chr12:1913584-1914083	A549	lung:	n/a	n/a
11	E2F6	chr12:1913545-1914319	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr12:1913524-1914231	A549	lung:	n/a	chr12:1913782-1913792
13	TAF1	chr12:1913753-1914103	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr12:1913794-1914087	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:1913726-1914163	GM12878	blood:	n/a	n/a
16	GABPA	chr12:1913595-1914230	MCF-7	breast:	n/a	n/a
17	ELF1	chr12:1913575-1914159	GM12878	blood:	n/a	chr12:1913868-1913881
18	POLR2A	chr12:1913658-1914173	K562	blood:	n/a	n/a
19	POLR2A	chr12:1913727-1914080	H1-neurons	neurons:	n/a	n/a
20	ELF1	chr12:1913590-1914103	K562	blood:	n/a	chr12:1913868-1913881
21	TCF12	chr12:1913541-1914299	A549	lung:	n/a	chr12:1914079-1914087
22	YY1	chr12:1913442-1914114	GM12878	blood:	n/a	n/a
23	ELF1	chr12:1913525-1914187	SK-N-SH	brain:	n/a	chr12:1913868-1913881
24	E2F6	chr12:1913705-1914129	K562	blood:	n/a	n/a
25	MAX	chr12:1913694-1914079	K562	blood:	n/a	chr12:1913782-1913792
26	POLR2A	chr12:1913767-1914087	MCF-7	breast:	n/a	n/a
27	E2F6	chr12:1913732-1914165	A549	lung:	n/a	n/a
28	POLR2A	chr12:1913684-1914200	GM12892	blood:	n/a	n/a
29	GABPA	chr12:1913381-1914313	MCF-7	breast:	n/a	n/a
30	YY1	chr12:1913462-1914076	SK-N-SH	brain:	n/a	n/a
31	ELF1	chr12:1913531-1914167	A549	lung:	n/a	chr12:1913868-1913881
32	ELF1	chr12:1913555-1914283	MCF-7	breast:	n/a	chr12:1913868-1913881
33	ELF1	chr12:1913587-1914100	A549	lung:	n/a	chr12:1913868-1913881
34	POLR2A	chr12:1913730-1914211	GM12878	blood:	n/a	n/a
35	GABPA	chr12:1913590-1914124	HL-60	blood:	n/a	n/a
36	GTF2F1	chr12:1913793-1914100	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr12:1913648-1914066	GM12878	blood:	n/a	n/a
38	TEAD4	chr12:1913657-1914106	K562	blood:	n/a	n/a
39	POLR2A	chr12:1913613-1914234	PFSK-1	brain:	n/a	n/a
40	POLR2A	chr12:1913793-1914081	GM12878	blood:	n/a	n/a
41	GABPA	chr12:1913641-1914110	H1-hESC	embryonic stem cell:	n/a	n/a
42	GABPA	chr12:1913516-1914283	SK-N-SH	brain:	n/a	n/a
43	STAT3	chr12:1913545-1914083	MCF10A-Er-Src	breast:	n/a	chr12:1913870-1913881 chr12:1913984-1913996
44	SP1	chr12:1913526-1914131	A549	lung:	n/a	n/a
45	ELF1	chr12:1913400-1914342	HCT-116	colon:	n/a	chr12:1913868-1913881
46	MAX	chr12:1913464-1914283	A549	lung:	n/a	chr12:1913782-1913792
47	MXI1	chr12:1913685-1914098	HepG2	liver:	n/a	n/a
48	MAX	chr12:1913632-1914066	Hela-S3	cervix:	n/a	chr12:1913782-1913792
49	POLR2A	chr12:1913681-1914246	U87	brain:	n/a	n/a
50	MAX	chr12:1913604-1914145	H1-hESC	embryonic stem cell:	n/a	chr12:1913782-1913792

No.	Distal block	Cell Line	Cell type
1	chr12:1913786..1914380-chr7:76038925..76039444,2	HCT-116	colon:
2	chr12:1911026..1914378-chr12:2033211..2036733,3	MCF-7	breast:
3	chr12:1912567..1917043-chr12:1917472..1921043,5	K562	blood:
4	chr12:1912567..1914410-chr12:1917472..1919007,2	K562	blood:
5	chr12:1908657..1911491-chr12:1913622..1915388,2	MCF-7	breast:
6	chr12:1905522..1910417-chr12:1912711..1915784,4	K562	blood:

Variant related genes	Relation type
CACNA2D4	TF binding region
ENSG00000151062	Chromatin interaction
ENSG00000146700	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11061883	1.00[ASN][1000 genomes]
rs11833546	1.00[ASN][1000 genomes]
rs4765865	1.00[ASN][1000 genomes]
rs73032440	1.00[ASN][1000 genomes]
rs73038172	1.00[ASN][1000 genomes]
rs73038195	1.00[ASN][1000 genomes]
rs73041873	1.00[ASN][1000 genomes]
rs73041897	1.00[ASN][1000 genomes]
rs73043810	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969511	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1905600-1928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1906800-1915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:1910000-1916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:1910000-1916400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:1910800-1915000	Weak transcription	HSMMtube	muscle
6	chr12:1910800-1920000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:1911200-1915400	Weak transcription	HSMM	muscle
8	chr12:1911600-1919200	Weak transcription	Osteobl	bone
9	chr12:1912800-1914600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:1912800-1917000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:1913200-1916200	Enhancers	Left Ventricle	heart
12	chr12:1913400-1914400	Enhancers	HepG2	liver
13	chr12:1913400-1917000	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:1913600-1914200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:1913600-1914200	Enhancers	K562	blood
16	chr12:1913600-1914400	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:1913600-1914600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:1913800-1914200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:1913800-1914200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:1913800-1914200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr12:1913800-1914200	Enhancers	Primary T cells from cord blood	blood
22	chr12:1913800-1914200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:1913800-1914200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:1913800-1914200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:1913800-1914200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:1913800-1914200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:1913800-1914200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:1913800-1914200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:1913800-1914200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:1913800-1914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:1913800-1914200	Active TSS	Brain Angular Gyrus	brain
32	chr12:1913800-1914200	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:1913800-1914200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:1913800-1914200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:1913800-1914200	Active TSS	Fetal Brain Female	brain
36	chr12:1913800-1914200	Enhancers	Fetal Kidney	kidney
37	chr12:1913800-1914200	Enhancers	Fetal Stomach	stomach
38	chr12:1913800-1914200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:1913800-1914200	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:1913800-1914200	Enhancers	Dnd41	blood
41	chr12:1913800-1914200	Flanking Active TSS	Hela-S3	cervix
42	chr12:1913800-1914200	Enhancers	HMEC	breast
43	chr12:1913800-1914400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:1913800-1914400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:1913800-1914400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:1913800-1914400	Enhancers	Fetal Brain Male	brain
47	chr12:1913800-1914400	Enhancers	Thymus	Thymus
48	chr12:1913800-1914400	Enhancers	GM12878-XiMat	blood
49	chr12:1913800-1914600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:1913800-1914800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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