Variant report

Variant	nsv966843
Chromosome Location	chr7:71160031-71162777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144656184	chr7:71160074-71160075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116009107	chr7:71160077-71160078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552671426	chr7:71160087-71160088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574160114	chr7:71160100-71160101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565922368	chr7:71160103-71160104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535662759	chr7:71160107-71160108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115689085	chr7:71160111-71160112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34168953	chr7:71160115-71160116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66607314	chr7:71160137-71160138	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546217644	chr7:71160169-71160170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564783872	chr7:71160197-71160198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537036201	chr7:71160201-71160202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189388135	chr7:71160244-71160245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562175206	chr7:71160245-71160246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529362777	chr7:71160248-71160249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181339468	chr7:71160344-71160345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74802638	chr7:71160367-71160368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189406812	chr7:71160373-71160374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552218147	chr7:71160409-71160410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570384273	chr7:71160427-71160428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77001195	chr7:71160437-71160438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546147868	chr7:71160499-71160500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371172642	chr7:71160518-71160519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547657597	chr7:71160536-71160537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547244566	chr7:71160547-71160548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375668428	chr7:71160548-71160549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567817693	chr7:71160582-71160583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180957244	chr7:71160675-71160676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557006454	chr7:71160726-71160727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10282695	chr7:71160767-71160768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140613078	chr7:71160785-71160786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10254113	chr7:71160806-71160807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550460097	chr7:71160813-71160814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573540026	chr7:71160821-71160822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186154860	chr7:71161032-71161033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78723094	chr7:71161098-71161099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574073329	chr7:71161174-71161175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544414224	chr7:71161188-71161189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569505527	chr7:71161223-71161224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190962012	chr7:71161233-71161234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147828569	chr7:71161249-71161250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112189690	chr7:71161265-71161266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76566410	chr7:71161269-71161270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374551128	chr7:71161273-71161274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545948022	chr7:71161288-71161289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564049182	chr7:71161315-71161316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528322481	chr7:71161367-71161368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139649210	chr7:71161375-71161376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567755826	chr7:71161435-71161436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78478153	chr7:71161452-71161453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71140800-71162000	Weak transcription	Aorta	Aorta
2	chr7:71148600-71162400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:71148600-71163800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:71149600-71170600	Weak transcription	Ovary	ovary
5	chr7:71152600-71162400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:71154200-71161800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:71157600-71176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:71158400-71160200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:71159600-71160400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:71159600-71160600	Enhancers	Fetal Muscle Trunk	muscle
11	chr7:71159600-71160800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:71159800-71160200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:71159800-71160200	Enhancers	Right Ventricle	heart
14	chr7:71159800-71160200	Enhancers	HSMM	muscle
15	chr7:71159800-71160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:71159800-71160400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:71159800-71160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:71159800-71160400	Enhancers	Fetal Heart	heart
19	chr7:71159800-71160600	Enhancers	Fetal Stomach	stomach
20	chr7:71159800-71160800	Enhancers	Fetal Brain Male	brain
21	chr7:71160000-71160400	Enhancers	NH-A	brain
22	chr7:71160200-71160800	Enhancers	Right Atrium	heart
23	chr7:71160200-71170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:71160400-71162000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:71160800-71161800	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:71161800-71163400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:71162000-71162200	ZNF genes & repeats	Aorta	Aorta
28	chr7:71162000-71162200	Enhancers	Fetal Muscle Leg	muscle
29	chr7:71162000-71162400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:71162400-71162600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr7:71162400-71162600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr7:71162400-71162600	ZNF genes & repeats	Aorta	Aorta
33	chr7:71162400-71168800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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