Variant report

Variant	nsv606202
Chromosome Location	chr7:11684576-11774687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11683389..11684905-chr7:11692828..11694972,2	K562	blood:
2	chr7:11693718..11695919-chr7:11698554..11700578,2	K562	blood:
3	chr7:11683389..11684905-chr7:11692828..11694972,2	K562	blood:
4	chr7:11693718..11695919-chr7:11698554..11700578,2	K562	blood:
5	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:
6	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:

Extended variants
information (count: 3363 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3363 , 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	rs12699252	chr7:11684576-11684577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374138421	chr7:11684600-11684601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542313780	chr7:11684623-11684624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139836152	chr7:11684675-11684676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192254697	chr7:11684712-11684713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540030813	chr7:11684727-11684728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560438788	chr7:11684735-11684736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532235054	chr7:11684827-11684828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551759685	chr7:11684844-11684845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142089525	chr7:11684872-11684873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146330603	chr7:11684907-11684908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548302639	chr7:11684971-11684972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76885734	chr7:11685014-11685015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568042484	chr7:11685055-11685056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534454217	chr7:11685076-11685077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547663863	chr7:11685091-11685092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139552206	chr7:11685117-11685118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540090102	chr7:11685135-11685136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556615566	chr7:11685154-11685155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13236165	chr7:11685200-11685201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560821213	chr7:11685229-11685230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144191164	chr7:11685260-11685261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145167448	chr7:11685296-11685297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572444531	chr7:11685318-11685319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1526556	chr7:11685356-11685357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561702445	chr7:11685366-11685367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56255942	chr7:11685376-11685377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576749551	chr7:11685382-11685383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545660300	chr7:11685493-11685494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200576129	chr7:11685541-11685542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558664798	chr7:11685598-11685599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73044146	chr7:11685607-11685608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531237602	chr7:11685633-11685634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148694727	chr7:11685639-11685640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183990592	chr7:11685645-11685646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188704835	chr7:11685650-11685651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142197154	chr7:11685689-11685690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544412878	chr7:11685752-11685753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552074329	chr7:11685754-11685755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112632582	chr7:11685858-11685859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114974039	chr7:11685880-11685881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1635179	chr7:11685899-11685900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528476235	chr7:11686013-11686014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570342383	chr7:11686035-11686036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535890062	chr7:11686109-11686110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191383818	chr7:11686116-11686117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4029023	chr7:11686149-11686150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572505926	chr7:11686165-11686166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184658154	chr7:11686190-11686191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1405327	chr7:11686199-11686200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11681800-11689600	Weak transcription	A549	lung
2	chr7:11687600-11690200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:11687800-11690200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:11688000-11690200	Enhancers	HUVEC	blood vessel
5	chr7:11688200-11690000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:11688200-11690200	Enhancers	Adipose Nuclei	Adipose
7	chr7:11688800-11689600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:11689200-11689400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:11689400-11704200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:11689600-11690800	Enhancers	A549	lung
11	chr7:11690200-11690400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:11690800-11695400	Weak transcription	A549	lung
13	chr7:11693000-11693400	Enhancers	Gastric	stomach
14	chr7:11695200-11695400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:11695400-11697600	Enhancers	A549	lung
16	chr7:11695400-11699000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:11697000-11697400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:11697600-11698000	Flanking Active TSS	A549	lung
19	chr7:11698000-11699000	Active TSS	A549	lung
20	chr7:11698200-11698400	Enhancers	Fetal Brain Male	brain
21	chr7:11698200-11699000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:11698400-11704200	Weak transcription	Fetal Brain Male	brain
23	chr7:11698600-11699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:11699000-11699200	Weak transcription	A549	lung
25	chr7:11699000-11699600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:11699200-11700000	Enhancers	A549	lung
27	chr7:11700000-11700400	Weak transcription	A549	lung
28	chr7:11700400-11702200	Enhancers	A549	lung
29	chr7:11702200-11704200	Weak transcription	A549	lung
30	chr7:11704200-11704400	Enhancers	Fetal Brain Male	brain
31	chr7:11704200-11704400	Flanking Active TSS	A549	lung
32	chr7:11704200-11705400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:11704400-11704600	Enhancers	A549	lung
34	chr7:11704600-11704800	Flanking Active TSS	A549	lung
35	chr7:11704600-11705600	Enhancers	Brain Germinal Matrix	brain
36	chr7:11704800-11705000	Active TSS	A549	lung
37	chr7:11705000-11705200	Enhancers	Fetal Lung	lung
38	chr7:11705000-11705200	Flanking Active TSS	A549	lung
39	chr7:11705200-11705400	Active TSS	A549	lung
40	chr7:11705200-11710600	Weak transcription	Fetal Lung	lung
41	chr7:11705400-11708200	Weak transcription	A549	lung
42	chr7:11705400-11708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:11706800-11707600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:11707400-11707800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:11707600-11709000	Enhancers	Fetal Heart	heart
46	chr7:11708200-11711000	Enhancers	A549	lung
47	chr7:11708400-11708600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:11710600-11710800	Enhancers	Fetal Lung	lung
49	chr7:11711000-11714200	Weak transcription	A549	lung
50	chr7:11713200-11713400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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