Variant report

Variant	rs71459362
Chromosome Location	chr12:56700701-56700702
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	CEBPB	chr12:56700426-56700825	MCF-7	breast:	n/a	chr12:56700647-56700658
2	CEBPB	chr12:56700594-56700718	HepG2	liver:	n/a	chr12:56700647-56700658
3	POLR2A	chr12:56700295-56700842	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr12:56700055-56701050	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:56700481-56700879	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr12:56700528-56700802	K562	blood:	n/a	n/a
7	POLR2A	chr12:56700557-56700953	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:56700586-56700711	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:56700684-56700706	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:56700291-56700766	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr12:56700655-56700832	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000257740	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12831884	1.00[AFR][1000 genomes]
rs34026747	1.00[AFR][1000 genomes]
rs34483615	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3816804	1.00[AFR][1000 genomes]
rs71459335	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56694600-56704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56694600-56708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56694800-56708200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:56694800-56708800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:56695000-56701800	Weak transcription	Ovary	ovary
6	chr12:56695000-56702000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:56695000-56702800	Weak transcription	Small Intestine	intestine
8	chr12:56695000-56703600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:56695000-56703600	Weak transcription	Esophagus	oesophagus
10	chr12:56695000-56703600	Weak transcription	Gastric	stomach
11	chr12:56695000-56704600	Weak transcription	Aorta	Aorta
12	chr12:56695000-56708000	Weak transcription	Fetal Brain Male	brain
13	chr12:56695000-56708600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:56695200-56701800	Weak transcription	HSMMtube	muscle
15	chr12:56695200-56702000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:56695200-56702000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:56695200-56702000	Weak transcription	Hela-S3	cervix
18	chr12:56695200-56702400	Weak transcription	NHDF-Ad	bronchial
19	chr12:56695200-56702600	Weak transcription	Left Ventricle	heart
20	chr12:56695200-56702800	Weak transcription	Spleen	Spleen
21	chr12:56695200-56703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:56695200-56703600	Weak transcription	Colonic Mucosa	Colon
23	chr12:56695200-56703600	Weak transcription	HMEC	breast
24	chr12:56695600-56708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:56695600-56708200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:56695600-56708600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:56695800-56708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:56695800-56708000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:56696000-56708200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:56696200-56701800	Weak transcription	Psoas Muscle	Psoas
31	chr12:56696200-56702400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:56696200-56702800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:56696200-56703600	Weak transcription	HUVEC	blood vessel
34	chr12:56696200-56704600	Weak transcription	Pancreas	Pancrea
35	chr12:56696200-56708200	Strong transcription	Fetal Intestine Small	intestine
36	chr12:56696200-56708400	Strong transcription	Fetal Stomach	stomach
37	chr12:56696400-56701800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:56696400-56702000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:56696400-56702000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:56696400-56703600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:56696400-56703800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:56696400-56704600	Weak transcription	Brain Substantia Nigra	brain
43	chr12:56696400-56707000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:56696400-56708000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:56696400-56708200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:56696400-56708200	Weak transcription	Stomach Mucosa	stomach
47	chr12:56696400-56708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:56696400-56708600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:56696600-56700800	Weak transcription	Dnd41	blood
50	chr12:56696600-56702000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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