Variant report

Variant	nsv6235
Chromosome Location	chr8:67188081-67232737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67187465..67190197-chr8:67197667..67200205,2	K562	blood:
2	chr8:67196893..67200364-chr8:67203105..67206589,3	K562	blood:
3	chr7:123742400..123742952-chr8:67226337..67226879,2	MCF-7	breast:
4	chr8:67196893..67200364-chr8:67203105..67206589,3	K562	blood:
5	chr8:67187465..67190197-chr8:67197667..67200205,2	K562	blood:
6	chr8:67089028..67089742-chr8:67192579..67193437,2	MCF-7	breast:

Extended variants
information (count: 1744 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544110092	chr8:67188102-67188103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558494038	chr8:67188112-67188113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10093532	chr8:67188129-67188130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77522367	chr8:67188159-67188160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572097942	chr8:67188172-67188173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184644310	chr8:67188193-67188194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572880676	chr8:67188198-67188199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10093655	chr8:67188227-67188228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75968422	chr8:67188232-67188233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561510166	chr8:67188244-67188245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559457814	chr8:67188253-67188254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189480821	chr8:67188280-67188281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16932710	chr8:67188281-67188282	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs16932713	chr8:67188373-67188374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180723871	chr8:67188374-67188375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546710066	chr8:67188393-67188394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560610546	chr8:67188411-67188412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16932717	chr8:67188412-67188413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549510808	chr8:67188415-67188416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569429322	chr8:67188442-67188443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376802723	chr8:67188451-67188452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563787176	chr8:67188492-67188493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538491027	chr8:67188497-67188498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552096994	chr8:67188499-67188500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186055606	chr8:67188509-67188510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28594471	chr8:67188523-67188524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528682349	chr8:67188546-67188547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571881102	chr8:67188553-67188554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371274285	chr8:67188620-67188621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539398308	chr8:67188624-67188625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552667733	chr8:67188640-67188641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530780201	chr8:67188658-67188659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572812783	chr8:67188661-67188662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189640663	chr8:67188664-67188665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181861713	chr8:67188665-67188666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575091752	chr8:67188668-67188669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544043053	chr8:67188672-67188673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564387665	chr8:67188675-67188676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577884898	chr8:67188697-67188698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186229290	chr8:67188721-67188722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71515014	chr8:67188736-67188737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560250850	chr8:67188738-67188739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529293693	chr8:67188740-67188741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190503704	chr8:67188745-67188746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28667870	chr8:67188759-67188760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552031877	chr8:67188800-67188801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571833999	chr8:67188833-67188834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534193738	chr8:67188851-67188852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74903658	chr8:67188883-67188884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73691508	chr8:67188888-67188889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67182400-67190000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:67182600-67190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67187000-67197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:67187800-67192600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:67189000-67190600	Enhancers	Fetal Heart	heart
6	chr8:67189400-67190400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:67189600-67190400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:67190000-67190200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:67190200-67190400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:67190200-67190400	Enhancers	HSMMtube	muscle
11	chr8:67190400-67191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:67190400-67192000	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:67190400-67194400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:67190600-67193400	Weak transcription	Fetal Heart	heart
15	chr8:67191800-67192800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67192000-67192200	Weak transcription	HSMMtube	muscle
17	chr8:67192000-67195600	Enhancers	Fetal Muscle Leg	muscle
18	chr8:67192200-67194200	Enhancers	HSMMtube	muscle
19	chr8:67192600-67192800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:67192800-67193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:67193400-67194800	Enhancers	Fetal Heart	heart
22	chr8:67193800-67194200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67194200-67203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:67194400-67195000	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:67194800-67196000	Weak transcription	Fetal Heart	heart
26	chr8:67195000-67195200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:67195200-67195600	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:67195600-67196400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:67195600-67196600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:67196000-67196800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:67196000-67197000	Enhancers	Fetal Heart	heart
32	chr8:67196400-67196600	Enhancers	Lung	lung
33	chr8:67196400-67196800	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:67196600-67197200	Weak transcription	Lung	lung
35	chr8:67196600-67198000	Enhancers	Fetal Muscle Leg	muscle
36	chr8:67196800-67197600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:67197200-67197800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:67197200-67197800	Enhancers	Lung	lung
39	chr8:67197600-67197800	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:67197600-67197800	Enhancers	Right Ventricle	heart
41	chr8:67197800-67198800	Weak transcription	Right Ventricle	heart
42	chr8:67197800-67199000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:67198600-67198800	Enhancers	Fetal Heart	heart
44	chr8:67198800-67199200	Enhancers	Brain Anterior Caudate	brain
45	chr8:67198800-67199200	Enhancers	Fetal Brain Male	brain
46	chr8:67198800-67199200	Enhancers	Right Ventricle	heart
47	chr8:67198800-67199400	Enhancers	Fetal Brain Female	brain
48	chr8:67199000-67199200	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:67200600-67201800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:67201200-67201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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