Variant report

Variant	nsv830969
Chromosome Location	chr7:40422576-40582389
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:1)
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	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
2	chr7:40561772..40563957-chr7:40570826..40573636,2	K562	blood:
3	chr7:40486893..40487438-chr7:40802655..40803441,2	MCF-7	breast:
4	chr7:40546524..40547688-chr7:40644081..40645084,3	MCF-7	breast:
5	chr7:40271945..40272762-chr7:40522914..40523878,2	MCF-7	breast:
6	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
7	chr7:40529348..40529994-chr7:40644364..40645119,2	MCF-7	breast:
8	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
9	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
10	chr7:40561772..40563957-chr7:40570826..40573636,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf11-3	chr7:40577726-40579281	ENSG00000203446.2

No data

Extended variants
information (count: 4518 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4518 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4560709	chr7:40422588-40422589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567647513	chr7:40436088-40436089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531099422	chr7:40436100-40436101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181376969	chr7:40436104-40436105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528845903	chr7:40436126-40436127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115022348	chr7:40436155-40436156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575098326	chr7:40436176-40436177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543962352	chr7:40436236-40436237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186033243	chr7:40436260-40436261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140595574	chr7:40436321-40436322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189345504	chr7:40436342-40436343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182394228	chr7:40436351-40436352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145812465	chr7:40436352-40436353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187006857	chr7:40436385-40436386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551791659	chr7:40436416-40436417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199577659	chr7:40436430-40436431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531146659	chr7:40436451-40436452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551170579	chr7:40436616-40436617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10263744	chr7:40436624-40436625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571144372	chr7:40436661-40436662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190944283	chr7:40436669-40436670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182776581	chr7:40436714-40436715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185965074	chr7:40436721-40436722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538975254	chr7:40436726-40436727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10250287	chr7:40436763-40436764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575161513	chr7:40436771-40436772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537670817	chr7:40436804-40436805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369477687	chr7:40436811-40436812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200010337	chr7:40436888-40436889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554378212	chr7:40436911-40436912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574283902	chr7:40436918-40436919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540002141	chr7:40436926-40436927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560147947	chr7:40436927-40436928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568501560	chr7:40436947-40436948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535953242	chr7:40436951-40436952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17171709	chr7:40437039-40437040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545752831	chr7:40437053-40437054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565601978	chr7:40437102-40437103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138391662	chr7:40437121-40437122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544902722	chr7:40437129-40437130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561503660	chr7:40437198-40437199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530311734	chr7:40437207-40437208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546779815	chr7:40437210-40437211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576204624	chr7:40437267-40437268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80006387	chr7:40437273-40437274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532416909	chr7:40437303-40437304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544062270	chr7:40437347-40437348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182675740	chr7:40437362-40437363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187851332	chr7:40437378-40437379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111667923	chr7:40440400-40440401	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:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40420800-40422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:40436000-40437200	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:40436200-40437000	Enhancers	HSMMtube	muscle
4	chr7:40436200-40437400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:40436400-40437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:40436600-40437000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:40436600-40437200	Enhancers	Fetal Heart	heart
8	chr7:40436800-40437200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:40436800-40437200	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:40436800-40437200	Enhancers	HSMM	muscle
11	chr7:40440400-40441800	Enhancers	HUVEC	blood vessel
12	chr7:40441000-40441200	Enhancers	NHDF-Ad	bronchial
13	chr7:40441000-40442600	Enhancers	Fetal Kidney	kidney
14	chr7:40441200-40442400	Weak transcription	NHDF-Ad	bronchial
15	chr7:40442200-40443000	Enhancers	Liver	Liver
16	chr7:40442200-40443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:40442400-40442600	Enhancers	Psoas Muscle	Psoas
18	chr7:40442400-40442600	Enhancers	NHDF-Ad	bronchial
19	chr7:40442400-40444800	Enhancers	HepG2	liver
20	chr7:40442600-40443400	Weak transcription	NHDF-Ad	bronchial
21	chr7:40443000-40443800	Flanking Active TSS	Liver	Liver
22	chr7:40443400-40443800	Enhancers	NHDF-Ad	bronchial
23	chr7:40443800-40445000	Enhancers	Liver	Liver
24	chr7:40444400-40445600	Weak transcription	Psoas Muscle	Psoas
25	chr7:40445800-40446000	Enhancers	Psoas Muscle	Psoas
26	chr7:40448600-40448800	ZNF genes & repeats	Aorta	Aorta
27	chr7:40448800-40450800	Weak transcription	Aorta	Aorta
28	chr7:40450800-40451000	ZNF genes & repeats	Aorta	Aorta
29	chr7:40451000-40458200	Weak transcription	Aorta	Aorta
30	chr7:40453600-40454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:40454400-40458200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:40457800-40458200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:40457800-40458200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:40457800-40458200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:40457800-40458400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:40457800-40458400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:40457800-40458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:40457800-40458600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:40457800-40458800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:40457800-40458800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:40458000-40458400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:40458000-40458600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr7:40458200-40458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:40458200-40458400	Enhancers	Aorta	Aorta
45	chr7:40458200-40458400	Enhancers	Ovary	ovary
46	chr7:40458200-40458400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:40458200-40460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:40458200-40460800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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