Variant report

Variant	nsv1017345
Chromosome Location	chr8:67184975-67209954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67089028..67089742-chr8:67192579..67193437,2	MCF-7	breast:
2	chr8:67196893..67200364-chr8:67203105..67206589,3	K562	blood:
3	chr8:67196893..67200364-chr8:67203105..67206589,3	K562	blood:
4	chr8:67187465..67190197-chr8:67197667..67200205,2	K562	blood:
5	chr8:67187465..67190197-chr8:67197667..67200205,2	K562	blood:

Extended variants
information (count: 981 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190681399	chr8:67184979-67184980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183184998	chr8:67184986-67184987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145692996	chr8:67185035-67185036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186086511	chr8:67185045-67185046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190362892	chr8:67185118-67185119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138310097	chr8:67185154-67185155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574907457	chr8:67185169-67185170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182921473	chr8:67185221-67185222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116258779	chr8:67185230-67185231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142802079	chr8:67185285-67185286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115527665	chr8:67185290-67185291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560041634	chr8:67185294-67185295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527281909	chr8:67185319-67185320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187931661	chr8:67185338-67185339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78725673	chr8:67185349-67185350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560798532	chr8:67185364-67185365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529784888	chr8:67185441-67185442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376276044	chr8:67185451-67185452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569825454	chr8:67185585-67185586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150610100	chr8:67185626-67185627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138697574	chr8:67185641-67185642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566003173	chr8:67185674-67185675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192146212	chr8:67185717-67185718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554923360	chr8:67185720-67185721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149540779	chr8:67185725-67185726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4737769	chr8:67185752-67185753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375674439	chr8:67185787-67185788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144101420	chr8:67185900-67185901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369401967	chr8:67185906-67185907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34338615	chr8:67185914-67185915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559781897	chr8:67185928-67185929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573507609	chr8:67185947-67185948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543683781	chr8:67185985-67185986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560904750	chr8:67186060-67186061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529722210	chr8:67186099-67186100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184090471	chr8:67186155-67186156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563418082	chr8:67186158-67186159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532335586	chr8:67186176-67186177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374682758	chr8:67186189-67186190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200644406	chr8:67186193-67186194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552381141	chr8:67186295-67186296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371127697	chr8:67186299-67186300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534885347	chr8:67186319-67186320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554372722	chr8:67186320-67186321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548199899	chr8:67186323-67186324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140510064	chr8:67186348-67186349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375637052	chr8:67186371-67186372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16932705	chr8:67186381-67186382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536662798	chr8:67186384-67186385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115440184	chr8:67186387-67186388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67172600-67186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67182400-67186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:67182400-67190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:67182600-67185600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:67182600-67190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67182800-67185400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:67185400-67185800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:67185600-67186400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:67186200-67187000	Enhancers	Fetal Brain Male	brain
10	chr8:67186200-67187600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:67186800-67187000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:67187000-67197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:67187400-67187800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:67187400-67187800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:67187800-67192600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:67189000-67190600	Enhancers	Fetal Heart	heart
17	chr8:67189400-67190400	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:67189600-67190400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:67190000-67190200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:67190200-67190400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:67190200-67190400	Enhancers	HSMMtube	muscle
22	chr8:67190400-67191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67190400-67192000	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:67190400-67194400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:67190600-67193400	Weak transcription	Fetal Heart	heart
26	chr8:67191800-67192800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:67192000-67192200	Weak transcription	HSMMtube	muscle
28	chr8:67192000-67195600	Enhancers	Fetal Muscle Leg	muscle
29	chr8:67192200-67194200	Enhancers	HSMMtube	muscle
30	chr8:67192600-67192800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:67192800-67193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:67193400-67194800	Enhancers	Fetal Heart	heart
33	chr8:67193800-67194200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:67194200-67203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:67194400-67195000	Enhancers	Fetal Muscle Trunk	muscle
36	chr8:67194800-67196000	Weak transcription	Fetal Heart	heart
37	chr8:67195000-67195200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:67195200-67195600	Enhancers	Fetal Muscle Trunk	muscle
39	chr8:67195600-67196400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:67195600-67196600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:67196000-67196800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:67196000-67197000	Enhancers	Fetal Heart	heart
43	chr8:67196400-67196600	Enhancers	Lung	lung
44	chr8:67196400-67196800	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:67196600-67197200	Weak transcription	Lung	lung
46	chr8:67196600-67198000	Enhancers	Fetal Muscle Leg	muscle
47	chr8:67196800-67197600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:67197200-67197800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:67197200-67197800	Enhancers	Lung	lung
50	chr8:67197600-67197800	Enhancers	Fetal Muscle Trunk	muscle

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