Variant report

Variant	esv10541
Chromosome Location	chr12:1770132-1770672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:1770080-1770230	AG09319	gingival:	n/a	n/a
2	CTCF	chr12:1770145-1770199	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr12:1769361-1770135	Hela-S3	cervix:	n/a	n/a
4	FOSL2	chr12:1770083-1770789	HepG2	liver:	n/a	n/a
5	HCFC1	chr12:1770588-1771521	Hela-S3	cervix:	n/a	n/a
6	HEY1	chr12:1770115-1770708	K562	blood:	n/a	n/a
7	HEY1	chr12:1770038-1771026	HepG2	liver:	n/a	chr12:1770752-1770767
8	MAX	chr12:1770643-1771466	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:1770607-1771510	HepG2	liver:	n/a	n/a
10	MAX	chr12:1770626-1771056	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr12:1770628-1771570	IMR90	lung:	n/a	n/a
12	MXI1	chr12:1770568-1771510	SK-N-SH	brain:	n/a	n/a
13	NR3C1	chr12:1770225-1770628	A549	lung:	n/a	n/a
14	NR3C1	chr12:1770062-1770854	A549	lung:	n/a	n/a
15	PAX5	chr12:1770163-1770719	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:1770601-1771073	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr12:1770109-1770360	K562	blood:	n/a	n/a
18	POLR2A	chr12:1770592-1771023	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr12:1770151-1771475	A549	lung:	n/a	n/a
20	POLR2A	chr12:1770587-1771418	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr12:1768890-1771564	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:1770151-1770670	A549	lung:	n/a	n/a
23	POLR2A	chr12:1770652-1771508	HL-60	blood:	n/a	n/a
24	POLR2A	chr12:1770655-1771565	K562	blood:	n/a	n/a
25	POLR2A	chr12:1769335-1770177	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:1770620-1771866	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:1770168-1770640	Hela-S3	cervix:	n/a	n/a
28	POU2F2	chr12:1770094-1770676	GM12891	blood:	n/a	n/a
29	REST	chr12:1770135-1770652	PFSK-1	brain:	n/a	n/a
30	REST	chr12:1770212-1770661	HepG2	liver:	n/a	n/a
31	RFX5	chr12:1769247-1770149	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr12:1770229-1770682	HepG2	liver:	n/a	n/a
33	SIX5	chr12:1770117-1770749	K562	blood:	n/a	n/a
34	SMARCB1	chr12:1770567-1771440	Hela-S3	cervix:	n/a	n/a
35	SPI1	chr12:1770588-1771526	HL-60	blood:	n/a	chr12:1770899-1770912 chr12:1771381-1771388 chr12:1770901-1770910 chr12:1770902-1770909
36	TCF12	chr12:1770165-1770702	HepG2	liver:	n/a	n/a
37	YY1	chr12:1770654-1771000	HepG2	liver:	n/a	n/a
38	ZBTB7A	chr12:1770562-1771576	ECC-1	luminal epithelium:	n/a	n/a
39	ZBTB7A	chr12:1770656-1771535	K562	blood:	n/a	n/a
40	ZBTB7A	chr12:1770642-1771011	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr12:1770098-1770218	HepG2	liver:	n/a	n/a
42	ZBTB7A	chr12:1770611-1771561	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1727058..1729024-chr12:1769642..1771498,2	K562	blood:
2	chr12:1770660..1771376-chrX:135962365..135962942,2	Hela-S3	cervix:
3	chr12:1769759..1773174-chr12:1808605..1811319,4	K562	blood:
4	chr12:1769818..1772528-chr12:1789216..1791447,2	MCF-7	breast:
5	chr11:61735698..61736575-chr12:1770400..1771018,2	Hela-S3	cervix:
6	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
7	chr12:1769575..1772464-chr12:1879364..1881156,2	MCF-7	breast:
8	chr12:1769374..1771394-chr12:1903241..1905339,2	K562	blood:
9	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
10	chr12:1769387..1773191-chr12:1797591..1801415,7	K562	blood:
11	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
12	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
13	chr12:1769631..1770598-chr12:130611123..130611927,2	Hela-S3	cervix:
14	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:
15	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:

No data

Variant related genes	Relation type
MIR3649	TF binding region
ENSG00000006831	chromatin interactions
ENSG00000151062	chromatin interactions
ENSG00000147274	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11615883	chr12:1770153-1770154	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10848544	chr12:1770165-1770166	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558498536	chr12:1770166-1770167	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573444019	chr12:1770177-1770178	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534419069	chr12:1770206-1770207	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs112531557	chr12:1770232-1770233	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113774559	chr12:1770287-1770288	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574110784	chr12:1770303-1770304	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs56102999	chr12:1770313-1770314	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs12829197	chr12:1770366-1770367	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566655077	chr12:1770462-1770463	Bivalent/Poised TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs572271428	chr12:1770529-1770530	Bivalent/Poised TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
2	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
3	chr12:1758400-1770600	Weak transcription	NH-A	brain
4	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:1760000-1770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1760800-1770800	Weak transcription	HSMM	muscle
8	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:1761600-1770800	Weak transcription	NHLF	lung
10	chr12:1764400-1770600	Weak transcription	Osteobl	bone
11	chr12:1764800-1770800	Weak transcription	NHDF-Ad	bronchial
12	chr12:1765000-1770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:1767800-1770600	Enhancers	Fetal Intestine Large	intestine
14	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:1768800-1770600	Enhancers	Pancreas	Pancrea
17	chr12:1768800-1770800	Enhancers	Stomach Mucosa	stomach
18	chr12:1769000-1770200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr12:1769000-1770400	Enhancers	Fetal Muscle Leg	muscle
20	chr12:1769000-1770600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:1769000-1770600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:1769000-1770600	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:1769000-1770600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:1769000-1770600	Enhancers	HMEC	breast
25	chr12:1769000-1770800	Enhancers	HUVEC	blood vessel
26	chr12:1769000-1771000	Enhancers	K562	blood
27	chr12:1769000-1771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:1769200-1770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:1769200-1770400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:1769200-1770600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1769200-1770600	Weak transcription	Psoas Muscle	Psoas
32	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:1769200-1770600	Weak transcription	Right Ventricle	heart
35	chr12:1769200-1771400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:1769400-1770200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:1769400-1770200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:1769400-1770200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:1769400-1770200	Enhancers	Colon Smooth Muscle	Colon
40	chr12:1769400-1770200	Flanking Active TSS	HepG2	liver
41	chr12:1769400-1770400	Flanking Active TSS	Hela-S3	cervix
42	chr12:1769400-1770600	Enhancers	Fetal Thymus	thymus
43	chr12:1769400-1770600	Enhancers	A549	lung
44	chr12:1769400-1770800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:1769400-1771200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:1769600-1770200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:1769600-1770200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:1769600-1770200	Weak transcription	Right Atrium	heart
49	chr12:1769600-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:1769600-1770600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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