Variant report

Variant	nsv1035078
Chromosome Location	chr7:11711728-11773517
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	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:
2	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:

Extended variants
information (count: 2149 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377498864	chr7:11711732-11711733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534827956	chr7:11711782-11711783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377441806	chr7:11711815-11711816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187978759	chr7:11711845-11711846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13224823	chr7:11711877-11711878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578208336	chr7:11711950-11711951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563592123	chr7:11711962-11711963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573567899	chr7:11711963-11711964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567735187	chr7:11711976-11711977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138602930	chr7:11711987-11711988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11475113	chr7:11711995-11711996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398094824	chr7:11712000-11712001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144147548	chr7:11712023-11712024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528203516	chr7:11712096-11712097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191544603	chr7:11712098-11712099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565183010	chr7:11712109-11712110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182501545	chr7:11712270-11712271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551000009	chr7:11712288-11712289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567901801	chr7:11712308-11712309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11978721	chr7:11712312-11712313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186520072	chr7:11712347-11712348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566856907	chr7:11712359-11712360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539164377	chr7:11712384-11712385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191359982	chr7:11712392-11712393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11972553	chr7:11712423-11712424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537212062	chr7:11712429-11712430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147323127	chr7:11712485-11712486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12537100	chr7:11712490-11712491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs561450729	chr7:11712517-11712518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542539648	chr7:11712531-11712532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12539870	chr7:11712536-11712537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12537123	chr7:11712557-11712558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544743189	chr7:11712584-11712585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563967594	chr7:11712594-11712595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573117470	chr7:11712646-11712647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114047496	chr7:11712657-11712658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551126025	chr7:11712669-11712670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561439510	chr7:11712701-11712702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140954353	chr7:11712718-11712719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12537133	chr7:11712778-11712779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184518824	chr7:11712779-11712780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1526528	chr7:11712819-11712820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs552715598	chr7:11712825-11712826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149397990	chr7:11712836-11712837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144771120	chr7:11712842-11712843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112316491	chr7:11712867-11712868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557151835	chr7:11712888-11712889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148537573	chr7:11712919-11712920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536594205	chr7:11712978-11712979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552836739	chr7:11712986-11712987	Weak transcription	n/a	n/a	Overlapped CNVs	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:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11711000-11714200	Weak transcription	A549	lung
2	chr7:11713200-11713400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:11714200-11714400	ZNF genes & repeats	A549	lung
4	chr7:11724800-11731800	Weak transcription	A549	lung
5	chr7:11726800-11729600	Weak transcription	Fetal Lung	lung
6	chr7:11728600-11730200	Enhancers	Primary B cells from cord blood	blood
7	chr7:11729600-11729800	Enhancers	Fetal Lung	lung
8	chr7:11729800-11730400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:11729800-11730600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:11729800-11730600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:11729800-11730800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:11729800-11730800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:11730000-11730400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:11731800-11732200	Enhancers	A549	lung
15	chr7:11732200-11737800	Weak transcription	A549	lung
16	chr7:11737800-11738000	Active TSS	A549	lung
17	chr7:11737800-11738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:11737800-11738400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:11737800-11738400	Enhancers	Fetal Heart	heart
20	chr7:11737800-11738800	Enhancers	Fetal Lung	lung
21	chr7:11737800-11739000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:11738000-11738200	Enhancers	Adipose Nuclei	Adipose
23	chr7:11738000-11738200	Flanking Active TSS	A549	lung
24	chr7:11738000-11738400	Enhancers	Fetal Kidney	kidney
25	chr7:11738000-11738400	Enhancers	Ovary	ovary
26	chr7:11738000-11738600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:11738000-11738800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:11738000-11738800	Enhancers	HUVEC	blood vessel
29	chr7:11738200-11738400	Enhancers	Primary B cells from cord blood	blood
30	chr7:11738200-11738400	Enhancers	A549	lung
31	chr7:11738200-11738600	Active TSS	Adipose Nuclei	Adipose
32	chr7:11738200-11742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:11738400-11738800	Weak transcription	A549	lung
34	chr7:11738400-11739000	Weak transcription	Primary B cells from cord blood	blood
35	chr7:11738400-11747000	Weak transcription	Fetal Kidney	kidney
36	chr7:11738600-11747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:11738800-11739000	Enhancers	A549	lung
38	chr7:11738800-11741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:11738800-11741800	Weak transcription	Fetal Lung	lung
40	chr7:11739000-11739200	Enhancers	Primary B cells from cord blood	blood
41	chr7:11739000-11739200	Flanking Active TSS	A549	lung
42	chr7:11739000-11741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:11739200-11739600	Active TSS	A549	lung
44	chr7:11739600-11741200	Weak transcription	A549	lung
45	chr7:11741200-11741600	Enhancers	A549	lung
46	chr7:11741400-11742000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:11741400-11742200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:11741400-11742400	Enhancers	NH-A	brain
49	chr7:11741400-11743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:11741600-11742000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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