Variant report

Variant	nsv887471
Chromosome Location	chr7:7343717-7348198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7347784..7350780-chr7:7350970..7352634,2	K562	blood:
2	chr7:7348114..7350291-chr7:7350684..7352673,2	MCF-7	breast:
3	chr7:7342819..7345113-chr7:7345346..7349373,3	K562	blood:
4	chr7:7342773..7344566-chr7:7352462..7355167,2	K562	blood:
5	chr7:7229626..7232056-chr7:7343354..7345777,2	K562	blood:
6	chr7:7342819..7345113-chr7:7345346..7349373,3	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11983597	chr7:7343717-7343718	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112261641	chr7:7343743-7343744	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181860196	chr7:7343765-7343766	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs145526213	chr7:7343783-7343784	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111478838	chr7:7343785-7343786	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547561009	chr7:7343802-7343803	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565783991	chr7:7343812-7343813	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs1548773	chr7:7343813-7343814	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1972566	chr7:7343840-7343841	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186350644	chr7:7343843-7343844	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191066454	chr7:7343850-7343851	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34001348	chr7:7343877-7343878	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537873043	chr7:7343885-7343886	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556315270	chr7:7343894-7343895	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs180682975	chr7:7343895-7343896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12673961	chr7:7343903-7343904	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1548774	chr7:7343909-7343910	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs543700882	chr7:7343925-7343926	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12673989	chr7:7343980-7343981	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546484592	chr7:7343990-7343991	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564791443	chr7:7344032-7344033	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532071912	chr7:7344034-7344035	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543390383	chr7:7344042-7344043	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561570338	chr7:7344047-7344048	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10238897	chr7:7344050-7344051	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7788567	chr7:7344143-7344144	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565500089	chr7:7344173-7344174	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532977599	chr7:7344179-7344180	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551236284	chr7:7344185-7344186	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531272886	chr7:7344201-7344202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186273525	chr7:7344202-7344203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556515249	chr7:7344203-7344204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112308442	chr7:7344211-7344212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568364243	chr7:7344214-7344215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113919735	chr7:7344251-7344252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191132633	chr7:7344253-7344254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34575984	chr7:7344270-7344271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572647182	chr7:7344274-7344275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371346915	chr7:7344294-7344295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35488543	chr7:7344361-7344362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117511429	chr7:7344391-7344392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183396887	chr7:7344422-7344423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187288536	chr7:7344476-7344477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528484200	chr7:7344492-7344493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374771767	chr7:7344503-7344504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577884025	chr7:7344529-7344530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190382294	chr7:7344538-7344539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541088599	chr7:7344557-7344558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370152372	chr7:7344564-7344565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7784265	chr7:7344571-7344572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
T-cell lymphomas	22341440	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7340400-7344400	Weak transcription	Gastric	stomach
2	chr7:7340800-7345000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:7341800-7344800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:7342800-7345000	Enhancers	Placenta	Placenta
5	chr7:7342800-7346000	Enhancers	Esophagus	oesophagus
6	chr7:7343000-7344200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr7:7343000-7346400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:7343200-7343800	Enhancers	Spleen	Spleen
9	chr7:7343200-7346400	Enhancers	Fetal Intestine Large	intestine
10	chr7:7343400-7343800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:7343800-7344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:7344200-7344800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:7344200-7346400	Enhancers	Fetal Intestine Small	intestine
14	chr7:7344400-7344800	Enhancers	Gastric	stomach
15	chr7:7344400-7345000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:7344400-7345000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:7344400-7345000	Enhancers	NHEK	skin
18	chr7:7344800-7345000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:7344800-7345600	Weak transcription	Gastric	stomach
20	chr7:7345600-7345800	Enhancers	Gastric	stomach
21	chr7:7345800-7348400	Weak transcription	Gastric	stomach
22	chr7:7346000-7360200	Weak transcription	Esophagus	oesophagus

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