Variant report

Variant	rs17800972
Chromosome Location	chr12:1921974-1921975
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	NR2F2	chr12:1921696-1922527	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:1921642-1922557	HL-60	blood:	n/a	n/a
3	TEAD4	chr12:1921972-1922508	K562	blood:	n/a	n/a
4	NR2F2	chr12:1921929-1922537	K562	blood:	n/a	n/a
5	RUNX3	chr12:1921849-1922245	GM12878	blood:	n/a	n/a
6	EP300	chr12:1921857-1922359	HepG2	liver:	n/a	n/a
7	UBTF	chr12:1921967-1922231	K562	blood:	n/a	n/a
8	MAX	chr12:1921858-1922420	K562	blood:	n/a	n/a
9	JUN	chr12:1921789-1923042	K562	blood:	n/a	chr12:1921946-1921957
10	HNF4G	chr12:1921889-1922464	HepG2	liver:	n/a	chr12:1922203-1922216 chr12:1922204-1922216 chr12:1922204-1922217 chr12:1922201-1922219 chr12:1922203-1922218 chr12:1922203-1922218 chr12:1922203-1922217 chr12:1922204-1922216 chr12:1922205-1922217 chr12:1922199-1922221 chr12:1922210-1922223 chr12:1922203-1922216 chr12:1922203-1922216 chr12:1922204-1922216 chr12:1922210-1922223 chr12:1922203-1922217 chr12:1922203-1922218 chr12:1922206-1922228 chr12:1922204-1922216 chr12:1922201-1922213 chr12:1922201-1922216
11	NR2F2	chr12:1921884-1922616	HepG2	liver:	n/a	n/a
12	STAT3	chr12:1921777-1922117	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr12:1921916-1922410	PFSK-1	brain:	n/a	n/a
14	STAT3	chr12:1921741-1922150	MCF10A-Er-Src	breast:	n/a	n/a
15	NR2F2	chr12:1921970-1922518	MCF-7	breast:	n/a	n/a
16	STAT3	chr12:1921922-1922316	MCF10A-Er-Src	breast:	n/a	n/a
17	TAF1	chr12:1921775-1922422	PFSK-1	brain:	n/a	n/a
18	BHLHE40	chr12:1921907-1922486	K562	blood:	n/a	n/a
19	POLR2A	chr12:1921684-1922535	NB4	blood:	n/a	n/a
20	RCOR1	chr12:1921883-1922517	K562	blood:	n/a	n/a
21	POLR2A	chr12:1921673-1922537	HL-60	blood:	n/a	n/a
22	MYBL2	chr12:1921851-1922551	HepG2	liver:	n/a	n/a
23	STAT3	chr12:1921935-1922435	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr12:1921683-1922787	NB4	blood:	n/a	n/a
25	RUNX3	chr12:1921917-1922231	GM12878	blood:	n/a	n/a
26	NR2F2	chr12:1921965-1922478	K562	blood:	n/a	n/a
27	GABPA	chr12:1921731-1922552	HL-60	blood:	n/a	n/a
28	FOSL2	chr12:1921859-1922531	HepG2	liver:	n/a	chr12:1921946-1921957
29	MYBL2	chr12:1921924-1922577	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:1921809-1922511	PFSK-1	brain:	n/a	n/a
31	TEAD4	chr12:1921816-1922502	HepG2	liver:	n/a	n/a
32	HEY1	chr12:1921841-1922377	HepG2	liver:	n/a	n/a
33	HDAC2	chr12:1921916-1922435	HepG2	liver:	n/a	n/a
34	FOS	chr12:1921962-1922445	MCF10A-Er-Src	breast:	n/a	chr12:1922276-1922287
35	MAX	chr12:1921768-1922058	K562	blood:	n/a	n/a
36	FOSL2	chr12:1921934-1922528	HepG2	liver:	n/a	chr12:1921946-1921957
37	HCFC1	chr12:1921952-1922323	K562	blood:	n/a	n/a
38	POLR2A	chr12:1921927-1922407	HepG2	liver:	n/a	n/a
39	KAP1	chr12:1921841-1922308	U2OS	brain:	n/a	n/a
40	MYC	chr12:1921703-1922697	NB4	blood:	n/a	n/a
41	SPI1	chr12:1921762-1922537	HL-60	blood:	n/a	n/a
42	JUND	chr12:1921853-1922513	K562	blood:	n/a	chr12:1921946-1921957 chr12:1922276-1922287

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1921269..1923557-chr12:2112437..2115050,2	MCF-7	breast:

Variant related genes	Relation type
CACNA2D4	TF binding region
ENSG00000203593	Chromatin interaction
ENSG00000151065	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12578700	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12580035	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:39 , 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	chr12:1917000-1923000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:1918200-1924000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:1918800-1924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:1919200-1924000	Enhancers	Adipose Nuclei	Adipose
6	chr12:1919400-1922800	Enhancers	HUVEC	blood vessel
7	chr12:1919800-1926000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:1920000-1925600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:1920000-1939400	Weak transcription	Gastric	stomach
10	chr12:1920200-1923600	Enhancers	Placenta	Placenta
11	chr12:1920400-1922600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:1920400-1923000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:1920400-1923000	Enhancers	Spleen	Spleen
14	chr12:1920600-1922600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:1920600-1923000	Enhancers	Fetal Intestine Large	intestine
16	chr12:1920600-1923400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:1920800-1922200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:1920800-1922600	Enhancers	Fetal Intestine Small	intestine
19	chr12:1920800-1922800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:1921000-1922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:1921000-1922600	Enhancers	Fetal Thymus	thymus
22	chr12:1921000-1923000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:1921000-1923800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:1921200-1922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:1921200-1922600	Flanking Active TSS	HepG2	liver
26	chr12:1921200-1922800	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:1921200-1925400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:1921400-1922400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr12:1921400-1922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:1921400-1925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:1921600-1922200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:1921600-1922600	Enhancers	HSMM	muscle
33	chr12:1921600-1923200	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr12:1921800-1922200	Flanking Active TSS	K562	blood
35	chr12:1921800-1922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:1921800-1922600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:1921800-1922600	Enhancers	Hela-S3	cervix
38	chr12:1921800-1922600	Bivalent Enhancer	NHLF	lung
39	chr12:1921800-1923800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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