Variant report

Variant	esv3407092
Chromosome Location	chr12:45342734-45368068
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:241803684..241804232-chr12:45354058..45354559,2	Hela-S3	cervix:
2	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
3	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:
4	chr12:45366332..45368097-chr12:45514780..45516888,12	MCF-7	breast:
5	chr12:45356113..45357820-chr12:45366859..45369459,2	K562	blood:
6	chr12:45342280..45342887-chr12:45354890..45355754,2	MCF-7	breast:
7	chr12:45342229..45343064-chr12:45516341..45517152,5	MCF-7	breast:
8	chr12:45367140..45370350-chr12:45371616..45375145,3	K562	blood:
9	chr12:45342280..45342887-chr12:45354890..45355754,2	MCF-7	breast:
10	chr12:45366306..45367231-chr12:45516422..45517207,2	MCF-7	breast:
11	chr12:44351332..44351888-chr12:45342306..45343125,2	MCF-7	breast:
12	chr12:44152736..44154248-chr12:45340094..45342820,2	K562	blood:
13	chr12:45364370..45366746-chr12:45513644..45516185,2	MCF-7	breast:
14	chr12:45342246..45343064-chr12:45516256..45517072,4	MCF-7	breast:
15	chr1:114889023..114889538-chr12:45342253..45342809,2	MCF-7	breast:
16	chr12:45342516..45343191-chr20:52556232..52556957,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198001	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000054277	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:265 , 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	rs447760	chr12:45342735-45342736	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368544648	chr12:45342752-45342753	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548791645	chr12:45342809-45342810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548227917	chr12:45342910-45342911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs385584	chr12:45342917-45342918	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534549277	chr12:45342931-45342932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552456273	chr12:45342936-45342937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs447309	chr12:45342940-45342941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187748498	chr12:45342996-45342997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556123783	chr12:45342999-45343000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193124941	chr12:45343084-45343085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370543636	chr12:45343109-45343110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72141190	chr12:45343110-45343111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71435998	chr12:45343112-45343113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149383058	chr12:45343117-45343118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58923721	chr12:45343119-45343120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113058396	chr12:45343122-45343123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530834003	chr12:45343126-45343127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372229172	chr12:45343148-45343149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553975615	chr12:45343156-45343157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572154349	chr12:45343157-45343158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552301748	chr12:45343188-45343189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184027592	chr12:45343189-45343190	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188530289	chr12:45343219-45343220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576367302	chr12:45343241-45343242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs364282	chr12:45343246-45343247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561646482	chr12:45343292-45343293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529030000	chr12:45343298-45343299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369119459	chr12:45343301-45343302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73288937	chr12:45343321-45343322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559354012	chr12:45343387-45343388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534859572	chr12:45343390-45343391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141428412	chr12:45343411-45343412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150398144	chr12:45343414-45343415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570844315	chr12:45343422-45343423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150134583	chr12:45343423-45343424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549813042	chr12:45343544-45343545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568356423	chr12:45343551-45343552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535804177	chr12:45343613-45343614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553976349	chr12:45343615-45343616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372711446	chr12:45343624-45343625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140320926	chr12:45343648-45343649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371558890	chr12:45343649-45343650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138429870	chr12:45343670-45343671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539657677	chr12:45343695-45343696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57765913	chr12:45343754-45343755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576432478	chr12:45343755-45343756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149056107	chr12:45343763-45343764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576290263	chr12:45343826-45343827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574540631	chr12:45343841-45343842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	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
Hodgkin''s lymphoma	18641027	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45342200-45342800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:45342400-45342800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:45342400-45342800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:45342400-45342800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:45342600-45342800	Flanking Active TSS	Dnd41	blood
6	chr12:45342600-45344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:45342600-45344400	Weak transcription	K562	blood
8	chr12:45342800-45344600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:45344400-45345000	Active TSS	K562	blood
10	chr12:45344400-45345200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:45344600-45344800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:45344600-45344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:45344600-45345000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:45344800-45345200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr12:45353800-45354600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:45353800-45354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:45354000-45354800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:45354000-45355000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:45354000-45355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:45354200-45354400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:45354200-45354800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:45354200-45354800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:45354200-45354800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:45354200-45354800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:45354200-45354800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:45354200-45354800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:45354200-45355000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:45361800-45364200	Enhancers	Dnd41	blood
29	chr12:45362000-45363200	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:45362000-45364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:45362200-45364000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:45362400-45363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:45362400-45363400	Enhancers	Primary T cells from cord blood	blood
35	chr12:45362800-45363200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:45366800-45367200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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