Variant report

Variant	nsv558749
Chromosome Location	chr12:43180190-43275097
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:43184139..43186103-chr12:44487352..44490285,2	K562	blood:
2	chr12:43253347..43257570-chr12:43259632..43262617,4	MCF-7	breast:
3	chr12:43201576..43204035-chr12:43205412..43207540,2	MCF-7	breast:
4	chr12:43274723..43276605-chr12:43285150..43287293,2	K562	blood:
5	chr12:43173451..43175672-chr12:43183405..43185439,2	MCF-7	breast:
6	chr12:43241796..43242729-chr8:111709968..111710717,2	MCF-7	breast:
7	chr12:43184050..43184801-chr2:195732990..195733768,2	MCF-7	breast:
8	chr12:43201576..43204035-chr12:43205412..43207540,2	MCF-7	breast:
9	chr12:42982698..42983359-chr12:43198437..43199068,2	MCF-7	breast:
10	chr12:43253347..43257570-chr12:43259632..43262617,4	MCF-7	breast:
11	chr12:43158534..43161475-chr12:43195875..43199598,3	MCF-7	breast:

No data

Extended variants
information (count: 3387 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3387 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs973001	chr12:43180190-43180191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543644680	chr12:43180272-43180273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2678145	chr12:43180336-43180337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530238559	chr12:43180337-43180338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2730998	chr12:43180405-43180406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200848336	chr12:43180406-43180407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577523966	chr12:43180428-43180429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538677024	chr12:43180474-43180475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557073192	chr12:43180520-43180521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368992445	chr12:43180547-43180548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561099694	chr12:43180554-43180555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117159102	chr12:43180625-43180626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187243584	chr12:43180631-43180632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561039439	chr12:43180665-43180666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142456347	chr12:43180669-43180670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540115175	chr12:43180751-43180752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565226035	chr12:43180758-43180759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113572692	chr12:43180767-43180768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551389235	chr12:43180781-43180782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2730999	chr12:43180829-43180830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530879253	chr12:43180846-43180847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550570118	chr12:43180907-43180908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549085106	chr12:43180908-43180909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191593044	chr12:43180955-43180956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552454212	chr12:43180987-43180988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113572348	chr12:43181006-43181007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546967501	chr12:43181030-43181031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183054892	chr12:43181049-43181050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113963031	chr12:43181201-43181202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185834960	chr12:43181215-43181216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575336109	chr12:43181248-43181249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2731000	chr12:43181274-43181275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138341348	chr12:43181350-43181351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2731001	chr12:43181438-43181439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540469356	chr12:43181445-43181446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112442395	chr12:43181489-43181490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555151628	chr12:43181507-43181508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544115201	chr12:43181518-43181519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563313770	chr12:43181553-43181554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530813700	chr12:43181555-43181556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190246181	chr12:43181576-43181577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561470544	chr12:43181678-43181679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143458515	chr12:43181685-43181686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547207078	chr12:43181731-43181732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528394544	chr12:43181737-43181738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532829339	chr12:43181738-43181739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182459391	chr12:43181774-43181775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137858993	chr12:43181875-43181876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77677524	chr12:43182008-43182009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368397534	chr12:43182009-43182010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43170000-43180200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:43174200-43180600	Weak transcription	HSMM	muscle
3	chr12:43175000-43183800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:43175400-43184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:43175600-43183400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:43177200-43180800	Weak transcription	Fetal Heart	heart
7	chr12:43177600-43182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:43178000-43180400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:43179400-43181800	Weak transcription	HUVEC	blood vessel
10	chr12:43179400-43185800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:43179600-43180600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:43179600-43181000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:43179800-43182200	Enhancers	Fetal Lung	lung
14	chr12:43180200-43181000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:43180200-43181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:43180200-43181200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:43180200-43181600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:43180400-43181000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:43180400-43181200	Enhancers	NH-A	brain
20	chr12:43180400-43181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:43180600-43180800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:43180600-43180800	Enhancers	Osteobl	bone
23	chr12:43180600-43181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:43180600-43181000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:43180600-43181000	Enhancers	NHLF	lung
26	chr12:43180600-43181200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:43180600-43181400	Enhancers	HSMMtube	muscle
28	chr12:43180600-43181600	Enhancers	HSMM	muscle
29	chr12:43180800-43181000	Enhancers	NHDF-Ad	bronchial
30	chr12:43180800-43184000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:43180800-43184400	Enhancers	Fetal Heart	heart
32	chr12:43181000-43181200	Enhancers	Placenta	Placenta
33	chr12:43181000-43181400	Weak transcription	NHLF	lung
34	chr12:43181000-43183800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:43181000-43184000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:43181000-43184000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:43181000-43184000	Weak transcription	Osteobl	bone
38	chr12:43181000-43184800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:43181200-43184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:43181200-43184000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:43181200-43184000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:43181200-43184000	Weak transcription	NH-A	brain
43	chr12:43181200-43185000	Weak transcription	Placenta	Placenta
44	chr12:43181400-43181600	Enhancers	NHLF	lung
45	chr12:43181400-43184400	Weak transcription	HSMMtube	muscle
46	chr12:43181600-43182800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:43181600-43183800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:43181600-43184000	Weak transcription	HSMM	muscle
49	chr12:43181600-43184200	Weak transcription	NHLF	lung
50	chr12:43181800-43182200	Enhancers	HUVEC	blood vessel

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