Variant report

Variant	nsv5711
Chromosome Location	chr7:40490519-40512988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
2	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:

Extended variants
information (count: 743 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187718075	chr7:40490553-40490554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539504184	chr7:40490588-40490589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555914757	chr7:40490591-40490592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74765469	chr7:40490634-40490635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541392067	chr7:40490668-40490669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs984367	chr7:40490676-40490677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146304709	chr7:40490677-40490678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192260102	chr7:40490731-40490732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556327139	chr7:40490776-40490777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540519140	chr7:40490799-40490800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139558403	chr7:40490804-40490805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575451983	chr7:40490826-40490827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546254921	chr7:40490833-40490834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562940848	chr7:40490848-40490849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531752210	chr7:40490937-40490938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548561103	chr7:40490941-40490942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183568661	chr7:40490948-40490949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527579063	chr7:40490958-40490959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187916433	chr7:40491006-40491007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570604053	chr7:40491017-40491018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192004374	chr7:40491074-40491075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549481391	chr7:40491079-40491080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184609512	chr7:40491110-40491111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577736422	chr7:40491176-40491177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535086831	chr7:40491187-40491188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368744408	chr7:40491189-40491190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545305332	chr7:40491203-40491204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147989373	chr7:40491204-40491205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575428873	chr7:40491232-40491233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554942447	chr7:40491300-40491301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574837496	chr7:40491330-40491331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534488948	chr7:40491365-40491366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554097528	chr7:40491382-40491383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560173532	chr7:40491409-40491410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117877006	chr7:40491420-40491421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546043932	chr7:40491475-40491476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188169541	chr7:40491551-40491552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75073210	chr7:40491559-40491560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542290827	chr7:40491560-40491561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17171712	chr7:40491628-40491629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527618404	chr7:40491655-40491656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34113517	chr7:40491697-40491698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546405085	chr7:40491774-40491775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112851893	chr7:40491788-40491789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372120653	chr7:40491793-40491794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118135500	chr7:40491808-40491809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144406583	chr7:40491827-40491828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549520273	chr7:40491844-40491845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184430108	chr7:40491848-40491849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189358167	chr7:40491877-40491878	Weak transcription	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:130 , 50 per page) page: 1 2 3

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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