Variant report

Variant	nsv521329
Chromosome Location	chr12:48044011-48051456
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48045249..48046046-chr12:48080121..48081065,3	MCF-7	breast:
2	chr12:48040105..48042458-chr12:48048872..48051635,2	K562	blood:
3	chr12:48050085..48052473-chr12:48066731..48069120,2	K562	blood:
4	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:
5	chr12:47940639..47941454-chr12:48051090..48052018,3	MCF-7	breast:
6	chr12:48044022..48046311-chr12:48051570..48054955,3	K562	blood:
7	chr12:48045147..48046102-chr12:48080596..48081443,2	K562	blood:
8	chr12:47426174..47426833-chr12:48051074..48051739,2	MCF-7	breast:
9	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:
10	chr12:48044527..48046603-chr12:48048041..48049724,2	K562	blood:

No data

Extended variants
information (count: 266 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:266 , 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	rs11168187	chr12:48044011-48044012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs369122398	chr12:48044015-48044016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533961527	chr12:48044116-48044117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554225389	chr12:48044133-48044134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570876552	chr12:48044151-48044152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78741829	chr12:48044195-48044196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142968788	chr12:48044196-48044197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1233058	chr12:48044214-48044215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538131244	chr12:48044237-48044238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535391525	chr12:48044285-48044286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566403213	chr12:48044289-48044290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150675334	chr12:48044302-48044303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574468458	chr12:48044315-48044316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556835778	chr12:48044340-48044341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539865277	chr12:48044357-48044358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568753922	chr12:48044398-48044399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181205971	chr12:48044449-48044450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142141196	chr12:48044487-48044488	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs63649863	chr12:48044488-48044489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs386376418	chr12:48044490-48044491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10629389	chr12:48044492-48044493	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190988107	chr12:48044495-48044496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1233057	chr12:48044506-48044507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113100052	chr12:48044537-48044538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546340663	chr12:48044558-48044559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535399444	chr12:48044592-48044593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531832467	chr12:48044613-48044614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185611608	chr12:48044649-48044650	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553586261	chr12:48044657-48044658	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562080007	chr12:48044703-48044704	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577289157	chr12:48044775-48044776	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527648587	chr12:48044896-48044897	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547476294	chr12:48044899-48044900	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139855939	chr12:48044900-48044901	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539541046	chr12:48044953-48044954	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370484390	chr12:48045061-48045062	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550294156	chr12:48045196-48045197	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141647933	chr12:48045217-48045218	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs398116413	chr12:48045224-48045225	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74626008	chr12:48045282-48045283	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569049001	chr12:48045286-48045287	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145152335	chr12:48045364-48045365	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188907182	chr12:48045457-48045458	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574809888	chr12:48045475-48045476	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574863438	chr12:48045481-48045482	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553500350	chr12:48045490-48045491	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147580146	chr12:48045500-48045501	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141971852	chr12:48045511-48045512	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs17122191	chr12:48045519-48045520	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145461225	chr12:48045551-48045552	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Adenoid cystic carcinoma	18332873	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
2	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:48016000-48044400	Weak transcription	NH-A	brain
5	chr12:48023600-48044800	Weak transcription	Gastric	stomach
6	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
7	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
10	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:48031400-48044600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
14	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48031600-48044600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:48035000-48044600	Weak transcription	HSMM	muscle
18	chr12:48036400-48044600	Weak transcription	NHDF-Ad	bronchial
19	chr12:48036600-48055400	Weak transcription	Ovary	ovary
20	chr12:48038200-48044200	Weak transcription	Osteobl	bone
21	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
22	chr12:48038400-48044200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:48038800-48044600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:48038800-48045000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:48038800-48045800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:48038800-48046000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:48039000-48044600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:48039000-48052800	Weak transcription	Dnd41	blood
30	chr12:48039200-48044600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:48039200-48044800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:48039200-48045000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:48039200-48046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:48039200-48046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
36	chr12:48039400-48045000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:48039800-48045400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:48040000-48044200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:48040200-48044200	Weak transcription	GM12878-XiMat	blood
42	chr12:48040200-48045600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
44	chr12:48040400-48044800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:48040600-48045600	Weak transcription	Fetal Kidney	kidney
46	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
47	chr12:48040800-48045000	Weak transcription	HMEC	breast
48	chr12:48041400-48045000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:48041800-48044200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:48042200-48044200	Weak transcription	A549	lung

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