Variant report

Variant	nsv887696
Chromosome Location	chr7:13801825-13857235
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	chr17:57922547..57924821-chr7:13833856..13835517,2	MCF-7	breast:

Extended variants
information (count: 2190 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6461048	chr7:13801825-13801826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369146174	chr7:13801864-13801865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181429294	chr7:13801879-13801880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145165485	chr7:13801896-13801897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149131891	chr7:13801920-13801921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10950488	chr7:13801926-13801927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143253995	chr7:13801944-13801945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138863047	chr7:13801966-13801967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540746181	chr7:13801982-13801983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200947323	chr7:13801983-13801984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184161497	chr7:13801991-13801992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75158792	chr7:13801992-13801993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551374634	chr7:13801994-13801995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571130537	chr7:13801997-13801998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532952719	chr7:13801998-13801999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556935525	chr7:13802018-13802019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372527577	chr7:13802022-13802023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549553476	chr7:13802030-13802031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573541352	chr7:13802063-13802064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373985358	chr7:13802077-13802078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377571015	chr7:13802133-13802134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375252056	chr7:13802163-13802164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563295968	chr7:13802239-13802240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12669010	chr7:13802261-13802262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555467416	chr7:13802272-13802273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188399070	chr7:13802283-13802284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113889285	chr7:13802307-13802308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564574643	chr7:13802337-13802338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10232078	chr7:13802338-13802339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374728177	chr7:13802351-13802352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544102574	chr7:13802362-13802363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114442460	chr7:13802376-13802377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529557724	chr7:13802390-13802391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78425919	chr7:13802404-13802405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201629550	chr7:13802409-13802410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559954708	chr7:13802436-13802437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370341285	chr7:13802442-13802443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377564689	chr7:13802484-13802485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146282458	chr7:13802487-13802488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373329291	chr7:13802488-13802489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528554251	chr7:13802491-13802492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551145338	chr7:13802495-13802496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571231900	chr7:13802535-13802536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180805844	chr7:13802538-13802539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550510065	chr7:13802540-13802541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567203650	chr7:13802545-13802546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185176571	chr7:13802563-13802564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143027383	chr7:13802623-13802624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192044079	chr7:13802641-13802642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572920808	chr7:13802643-13802644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13799600-13812200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:13803800-13812200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:13804800-13805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:13805200-13805600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr7:13805200-13805600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:13805600-13812400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:13808400-13820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:13809800-13810200	Enhancers	NHEK	skin
9	chr7:13809800-13810400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:13809800-13810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:13810000-13810400	Enhancers	NHDF-Ad	bronchial
12	chr7:13810000-13810600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:13810000-13810600	Enhancers	HSMM	muscle
14	chr7:13810400-13810800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:13810400-13814400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:13810600-13818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:13810800-13818400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:13812000-13812800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:13812000-13813200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:13812200-13812400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:13812200-13812600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:13812200-13813000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:13812400-13813000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:13813200-13813400	Enhancers	Osteobl	bone
25	chr7:13813200-13824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:13813600-13818200	Weak transcription	Osteobl	bone
27	chr7:13814200-13815400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:13814400-13814800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:13814800-13818200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:13818200-13819600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:13818200-13819800	Enhancers	Osteobl	bone
32	chr7:13818400-13818600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:13818400-13819600	Enhancers	NHEK	skin
34	chr7:13818600-13818800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:13818600-13818800	Enhancers	Lung	lung
36	chr7:13818600-13819000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:13818600-13819000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:13818600-13819000	Enhancers	HUVEC	blood vessel
39	chr7:13818600-13819200	Enhancers	HSMM	muscle
40	chr7:13818600-13819400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:13818600-13819600	Enhancers	HMEC	breast
42	chr7:13818600-13819600	Enhancers	NH-A	brain
43	chr7:13818800-13819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:13818800-13819200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:13818800-13824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:13819000-13819600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr7:13819000-13819600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:13819000-13820600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:13819200-13819600	Enhancers	NHDF-Ad	bronchial
50	chr7:13820000-13821800	Enhancers	HUES48 Cell Line	embryonic stem cell

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