Variant report

Variant	rs58862482
Chromosome Location	chr12:122988097-122988098
allele	G/T
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	POLR2A	chr12:122987530-122990634	GM12892	blood:	n/a	n/a
2	FOSL2	chr12:122987675-122988164	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:122987312-122989410	Hela-S3	cervix:	n/a	n/a
4	STAT5A	chr12:122987694-122988130	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:122987670-122988143	HCT-116	colon:	n/a	n/a
6	BCL3	chr12:122987707-122988180	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:122987771-122988124	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:122987748-122988300	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:122987639-122989058	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:122987633-122989823	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:122986678-122989211	GM12891	blood:	n/a	n/a
12	POLR2A	chr12:122987366-122989223	GM12891	blood:	n/a	n/a
13	POLR2A	chr12:122987501-122991414	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:122987794-122988138	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:122987665-122988283	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:122986753-122988926	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr12:122984476-122989092	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr12:122987704-122989176	K562	blood:	n/a	n/a
19	POLR2A	chr12:122987584-122988461	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr12:122986684-122989531	PFSK-1	brain:	n/a	n/a
21	PML	chr12:122987482-122989097	GM12878	blood:	n/a	n/a
22	CEBPD	chr12:122987742-122988435	K562	blood:	n/a	n/a
23	BCLAF1	chr12:122987695-122988099	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:122987699-122988741	HL-60	blood:	n/a	n/a
25	BCLAF1	chr12:122987568-122988739	GM12878	blood:	n/a	chr12:122988303-122988312
26	POLR2A	chr12:122984462-122989613	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr12:122987687-122990367	K562	blood:	n/a	n/a
28	POLR2A	chr12:122986700-122989409	U87	brain:	n/a	n/a
29	ATF2	chr12:122987889-122988655	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:122984584-122988911	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:122986699-122988940	PANC-1	pancreas:	n/a	n/a
32	GATA3	chr12:122987993-122988193	SH-SY5Y	brain:	n/a	n/a
33	POLR2A	chr12:122986707-122989775	GM12892	blood:	n/a	n/a
34	POLR2A	chr12:122986460-122989626	HepG2	liver:	n/a	n/a
35	MTA3	chr12:122986626-122988859	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:122987536-122988817	U87	brain:	n/a	n/a
37	POLR2A	chr12:122986808-122989085	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr12:122987958-122988231	K562	blood:	n/a	n/a
39	BCL3	chr12:122987474-122988962	K562	blood:	n/a	chr12:122988303-122988312
40	POLR2A	chr12:122987743-122989616	GM12878	blood:	n/a	n/a
41	POU2F2	chr12:122987656-122988134	GM12891	blood:	n/a	chr12:122987763-122987770 chr12:122987760-122987774 chr12:122987762-122987771 chr12:122987761-122987771 chr12:122987760-122987772 chr12:122987761-122987771 chr12:122987756-122987778
42	POLR2A	chr12:122987768-122988216	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr12:122986724-122990364	GM12892	blood:	n/a	n/a
44	POLR2A	chr12:122987789-122988614	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT5A	chr12:122987572-122988274	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:122986813-122990282	K562	blood:	n/a	n/a
47	POLR2A	chr12:122987207-122988103	K562	blood:	n/a	n/a
48	POLR2A	chr12:122987654-122989198	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:122987306-122988777	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr12:122986779-122991585	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122982366..122988748-chr12:123005500..123012938,17	MCF-7	breast:
2	chr12:122986382..122988482-chr12:122989690..122991321,2	MCF-7	breast:
3	chr12:122983227..122984874-chr12:122987269..122989231,2	K562	blood:

Variant related genes	Relation type
ZCCHC8	TF binding region
ENSG00000033030	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55742122	0.81[AFR][1000 genomes]
rs56345648	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56882949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58158680	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58388699	0.81[AFR][1000 genomes]
rs59060380	1.00[AMR][1000 genomes]
rs60133756	0.90[AFR][1000 genomes]
rs61183779	0.83[AFR][1000 genomes]
rs7132364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962592	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122985400-122988400	Weak transcription	Small Intestine	intestine
2	chr12:122985600-122991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122985600-122991000	Weak transcription	Aorta	Aorta
4	chr12:122985600-122991000	Weak transcription	Esophagus	oesophagus
5	chr12:122985600-122991000	Weak transcription	Ovary	ovary
6	chr12:122986000-122989400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:122986000-122990000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:122986000-122990400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122986000-122990600	Weak transcription	Stomach Mucosa	stomach
10	chr12:122986000-122991000	Weak transcription	Right Ventricle	heart
11	chr12:122986000-123001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122986200-122988800	Weak transcription	Colonic Mucosa	Colon
13	chr12:122986200-122989400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:122986200-122989400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:122986200-122989600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:122986200-122996800	Weak transcription	Fetal Heart	heart
17	chr12:122986200-123007600	Weak transcription	Right Atrium	heart
18	chr12:122986400-122988400	Weak transcription	Hela-S3	cervix
19	chr12:122986400-122991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:122986400-123003200	Strong transcription	Fetal Stomach	stomach
21	chr12:122986400-123007800	Strong transcription	Placenta	Placenta
22	chr12:122986600-122989400	Weak transcription	HepG2	liver
23	chr12:122986800-122989400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:122986800-122998200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:122986800-123001800	Strong transcription	Osteobl	bone
26	chr12:122986800-123002000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:122986800-123006600	Strong transcription	Brain Germinal Matrix	brain
28	chr12:122986800-123006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:122986800-123007000	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:122986800-123009400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:122987000-122988800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:122987000-122989200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:122987000-122989400	Weak transcription	K562	blood
34	chr12:122987000-123007800	Strong transcription	Fetal Thymus	thymus
35	chr12:122987200-122990800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:122987200-123003200	Strong transcription	Fetal Intestine Small	intestine
37	chr12:122987400-123003000	Strong transcription	Lung	lung
38	chr12:122987400-123006800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:122987400-123007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:122987400-123007200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:122987400-123007400	Strong transcription	Thymus	Thymus
42	chr12:122987400-123007600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:122987400-123007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:122987400-123007800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:122987600-122989800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:122987600-122989800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:122987600-123001000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:122987600-123001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:122987600-123001800	Strong transcription	NH-A	brain
50	chr12:122987600-123002200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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