Variant report

Variant	nsv1029342
Chromosome Location	chr7:40489083-40542933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
2	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
3	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
4	chr7:40529348..40529994-chr7:40644364..40645119,2	MCF-7	breast:
5	chr7:40271945..40272762-chr7:40522914..40523878,2	MCF-7	breast:

Extended variants
information (count: 1629 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7809620	chr7:40489083-40489084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145531937	chr7:40489084-40489085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190565585	chr7:40489159-40489160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182291939	chr7:40489199-40489200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549956091	chr7:40489287-40489288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544444831	chr7:40489320-40489321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561130982	chr7:40489348-40489349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7810098	chr7:40489369-40489370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10279411	chr7:40489398-40489399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148842246	chr7:40489585-40489586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2158761	chr7:40489596-40489597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532414792	chr7:40489607-40489608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185851377	chr7:40489725-40489726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190314280	chr7:40489744-40489745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367625806	chr7:40489746-40489747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146937364	chr7:40489822-40489823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112288652	chr7:40489823-40489824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113379525	chr7:40489834-40489835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536631134	chr7:40489835-40489836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28609181	chr7:40489843-40489844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28668981	chr7:40489844-40489845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181575455	chr7:40489860-40489861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371666531	chr7:40489876-40489877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142280943	chr7:40489878-40489879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576832030	chr7:40489973-40489974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529151274	chr7:40490011-40490012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545483930	chr7:40490026-40490027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541903153	chr7:40490033-40490034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185333476	chr7:40490044-40490045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575568163	chr7:40490077-40490078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146238859	chr7:40490099-40490100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148271539	chr7:40490100-40490101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530249196	chr7:40490128-40490129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4720366	chr7:40490164-40490165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540782187	chr7:40490181-40490182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62451201	chr7:40490297-40490298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138819550	chr7:40490298-40490299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113848716	chr7:40490372-40490373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57221158	chr7:40490379-40490380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397945204	chr7:40490383-40490384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142010728	chr7:40490398-40490399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191273906	chr7:40490426-40490427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563370159	chr7:40490450-40490451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548522900	chr7:40490452-40490453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182748717	chr7:40490499-40490500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55964496	chr7:40490506-40490507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2329776	chr7:40490508-40490509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187718075	chr7:40490553-40490554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539504184	chr7:40490588-40490589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555914757	chr7:40490591-40490592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40487000-40499800	Weak transcription	Aorta	Aorta
2	chr7:40487600-40494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:40490000-40490600	Enhancers	Fetal Stomach	stomach
4	chr7:40492400-40493200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:40492400-40493200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:40492600-40493000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:40492600-40493200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:40492600-40493200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:40492600-40493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:40492600-40493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:40492600-40493400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:40492800-40493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:40494200-40494400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:40494400-40495600	Enhancers	HepG2	liver
15	chr7:40494400-40497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:40494600-40496000	Enhancers	Liver	Liver
17	chr7:40494800-40495400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:40494800-40495800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:40495000-40495400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:40495000-40495600	Enhancers	Adipose Nuclei	Adipose
21	chr7:40495200-40495600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:40495400-40495800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:40495600-40499800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:40495800-40501000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:40497000-40500000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:40498400-40498600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:40499200-40499400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:40499200-40499400	Enhancers	NHDF-Ad	bronchial
29	chr7:40499800-40500000	Enhancers	Aorta	Aorta
30	chr7:40499800-40501600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:40500000-40501000	Weak transcription	Aorta	Aorta
32	chr7:40501000-40501400	Enhancers	Aorta	Aorta
33	chr7:40501000-40501800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:40501000-40501800	Enhancers	Fetal Heart	heart
35	chr7:40501200-40502000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:40501400-40501600	Flanking Active TSS	Aorta	Aorta
37	chr7:40501400-40502000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:40501400-40502000	Enhancers	Adipose Nuclei	Adipose
39	chr7:40501600-40501800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:40501600-40502000	Enhancers	HSMMtube	muscle
41	chr7:40501600-40503600	Active TSS	Aorta	Aorta
42	chr7:40501800-40502600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:40502000-40502400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:40502000-40503000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:40502000-40503000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:40502400-40503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:40502600-40502800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:40502600-40503400	Enhancers	NHLF	lung
49	chr7:40502800-40503400	Enhancers	NH-A	brain
50	chr7:40502800-40508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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