Variant report

Variant	esv3324940
Chromosome Location	chr12:51640852-51648054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51608943..51615058-chr12:51635250..51642835,14	K562	blood:
2	chr12:51631566..51635285-chr12:51647084..51650032,4	MCF-7	breast:
3	chr12:51440029..51443353-chr12:51638009..51641957,3	MCF-7	breast:
4	chr12:51618045..51620517-chr12:51639650..51641374,2	K562	blood:
5	chr12:51475911..51479702-chr12:51634794..51641655,10	K562	blood:
6	chr12:51643971..51646129-chr12:51647187..51649936,2	K562	blood:
7	chr12:51441033..51441729-chr12:51640254..51641009,2	K562	blood:
8	chr12:51640470..51640970-chr21:33845338..33846204,2	MCF-7	breast:
9	chr12:51639155..51642440-chr12:51654128..51658049,5	MCF-7	breast:
10	chr12:51494199..51498284-chr12:51638570..51642133,3	K562	blood:
11	chr12:51643971..51646129-chr12:51647187..51649936,2	K562	blood:
12	chr12:51644652..51646960-chr12:51662146..51665131,2	K562	blood:
13	chr12:51639097..51641707-chr12:51654193..51657011,2	K562	blood:
14	chr12:51636660..51641391-chr12:51662083..51664284,5	MCF-7	breast:
15	chr12:51638552..51640559-chr12:51641323..51644888,4	MCF-7	breast:
16	chr12:51473258..51478618-chr12:51645258..51648638,5	K562	blood:
17	chr12:51416351..51420123-chr12:51638959..51641750,3	MCF-7	breast:
18	chr12:51642963..51645463-chr12:51661236..51663981,2	K562	blood:
19	chr12:51610971..51613616-chr12:51643327..51646267,3	K562	blood:
20	chr12:51640213..51641815-chr12:51650624..51652609,2	K562	blood:
21	chr12:51640501..51643365-chr12:51664040..51666792,2	K562	blood:
22	chr12:51475732..51477447-chr12:51644320..51647716,3	MCF-7	breast:
23	chr12:51640991..51642656-chr12:51660376..51662126,2	K562	blood:
24	chr12:51475383..51477752-chr12:51647845..51650738,3	MCF-7	breast:
25	chr12:51441660..51442174-chr12:51640154..51640868,2	MCF-7	breast:
26	chr12:51476770..51479702-chr12:51639185..51641860,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110911	chromatin interactions
ENSG00000269339	chromatin interactions
ENSG00000170545	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000184271	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000135457	chromatin interactions

Extended variants
information (count: 260 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527639658	chr12:51640899-51640900	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs2292894	chr12:51640986-51640987	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs143196530	chr12:51640998-51640999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs77553420	chr12:51641036-51641037	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs398019556	chr12:51641037-51641038	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs189863891	chr12:51641060-51641061	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs539925181	chr12:51641072-51641073	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs534400392	chr12:51641113-51641114	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs146047245	chr12:51641136-51641137	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs148280240	chr12:51641145-51641146	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs76156371	chr12:51641239-51641240	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs567969531	chr12:51641257-51641258	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs555589163	chr12:51641263-51641264	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs572270958	chr12:51641274-51641275	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs540589496	chr12:51641309-51641310	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs183176154	chr12:51641475-51641476	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs577243923	chr12:51641491-51641492	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs543109485	chr12:51641537-51641538	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs117208786	chr12:51641539-51641540	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs111299560	chr12:51641554-51641555	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs531895634	chr12:51641598-51641599	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs141141469	chr12:51641628-51641629	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs34312907	chr12:51641629-51641630	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs562381067	chr12:51641644-51641645	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs187859639	chr12:51641645-51641646	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs548143200	chr12:51641674-51641675	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs116853086	chr12:51641696-51641697	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs533413523	chr12:51641713-51641714	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs550289306	chr12:51641728-51641729	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs556616780	chr12:51641740-51641741	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs570054622	chr12:51641765-51641766	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs367958839	chr12:51641772-51641773	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs535608408	chr12:51641776-51641777	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs35154800	chr12:51641783-51641784	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs371726709	chr12:51641837-51641838	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs11169778	chr12:51641856-51641857	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs372556205	chr12:51641863-51641864	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs565899998	chr12:51641864-51641865	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs73109020	chr12:51641870-51641871	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557673877	chr12:51641872-51641873	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs139150846	chr12:51641876-51641877	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs543021764	chr12:51641888-51641889	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs75234923	chr12:51641901-51641902	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs556973552	chr12:51641911-51641912	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs142467525	chr12:51641929-51641930	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs111658372	chr12:51641946-51641947	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73109022	chr12:51641972-51641973	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139906157	chr12:51642004-51642005	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191475079	chr12:51642056-51642057	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564811830	chr12:51642081-51642082	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51634000-51641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51634800-51641000	Strong transcription	Fetal Brain Female	brain
3	chr12:51635200-51647000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:51636200-51642200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:51636200-51643200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:51636200-51657000	Weak transcription	Small Intestine	intestine
7	chr12:51636800-51641400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:51637000-51641600	Weak transcription	Fetal Brain Male	brain
9	chr12:51637200-51641200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:51638400-51641200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:51638400-51641200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:51638400-51653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:51639200-51642000	Genic enhancers	Placenta	Placenta
15	chr12:51639200-51642600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51639200-51642800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:51639200-51644600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:51639400-51642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:51639400-51642600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:51639400-51642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:51639400-51642800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:51639600-51641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:51639600-51641400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:51639600-51641400	Weak transcription	Colonic Mucosa	Colon
25	chr12:51639600-51641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:51639600-51642400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:51639600-51642600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:51639800-51641000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:51639800-51641200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:51639800-51641400	Weak transcription	Brain Germinal Matrix	brain
31	chr12:51639800-51641400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:51639800-51641800	Enhancers	Fetal Kidney	kidney
33	chr12:51639800-51641800	Genic enhancers	Thymus	Thymus
34	chr12:51639800-51642000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:51639800-51642400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:51639800-51642400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:51639800-51643000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:51639800-51643200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:51639800-51643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:51639800-51646600	Weak transcription	Aorta	Aorta
41	chr12:51639800-51656800	Weak transcription	HSMMtube	muscle
42	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
43	chr12:51640000-51641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51640000-51641400	Weak transcription	Gastric	stomach
45	chr12:51640000-51641400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:51640000-51641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:51640000-51641800	Enhancers	Liver	Liver
48	chr12:51640000-51641800	Enhancers	HepG2	liver
49	chr12:51640000-51642200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:51640000-51642200	Enhancers	Duodenum Mucosa	Duodenum

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