Variant report

Variant	nsv8421
Chromosome Location	chr9:16899923-16904878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 308 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148799468	chr9:16899928-16899929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183578203	chr9:16899946-16899947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201389779	chr9:16900004-16900005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567250195	chr9:16900011-16900012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10118889	chr9:16900029-16900030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188265366	chr9:16900101-16900102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373860156	chr9:16900106-16900107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577244115	chr9:16900116-16900117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142234224	chr9:16900120-16900121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146020100	chr9:16900121-16900122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200919795	chr9:16900123-16900124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386733156	chr9:16900124-16900125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200447698	chr9:16900125-16900126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201394049	chr9:16900126-16900127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375054318	chr9:16900127-16900128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369486105	chr9:16900129-16900130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374692130	chr9:16900148-16900149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375965529	chr9:16900179-16900180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547655182	chr9:16900196-16900197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142478383	chr9:16900225-16900226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10962674	chr9:16900277-16900278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs151299380	chr9:16900281-16900282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191573642	chr9:16900313-16900314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561575653	chr9:16900314-16900315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114195316	chr9:16900353-16900354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184055068	chr9:16900356-16900357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565401868	chr9:16900371-16900372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536509463	chr9:16900389-16900390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10962675	chr9:16900398-16900399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10962676	chr9:16900399-16900400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560143051	chr9:16900412-16900413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189837329	chr9:16900424-16900425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377060849	chr9:16900428-16900429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181927340	chr9:16900442-16900443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368659000	chr9:16900444-16900445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537523428	chr9:16900462-16900463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534332407	chr9:16900489-16900490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13296025	chr9:16900507-16900508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571023232	chr9:16900518-16900519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538205974	chr9:16900522-16900523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4409488	chr9:16900527-16900528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13295755	chr9:16900541-16900542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554843035	chr9:16900556-16900557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577301692	chr9:16900559-16900560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80185362	chr9:16900561-16900562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386733157	chr9:16900567-16900568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13297036	chr9:16900573-16900574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13296061	chr9:16900577-16900578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190588121	chr9:16900580-16900581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527578042	chr9:16900597-16900598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16898400-16900400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:16899200-16900200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:16899200-16900200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr9:16899400-16900000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:16899400-16900200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:16899400-16900200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:16899400-16900200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:16899400-16900200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:16899600-16900000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:16899600-16900000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:16899600-16900000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:16899600-16900200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16899800-16900200	Enhancers	NHDF-Ad	bronchial
14	chr9:16900000-16900400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:16900200-16901400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:16901400-16902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16901600-16902000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:16902000-16914800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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