Variant report

Variant	nsv972633
Chromosome Location	chr9:136949751-136953760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136931980..136934490-chr9:136948173..136950156,2	K562	blood:
2	chr9:136932544..136934724-chr9:136952923..136955342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169925	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557949484	chr9:136949810-136949811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569848181	chr9:136949818-136949819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115495195	chr9:136949868-136949869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547445810	chr9:136949877-136949878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142270253	chr9:136949879-136949880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570760329	chr9:136949886-136949887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150892691	chr9:136949901-136949902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181074300	chr9:136949908-136949909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556270277	chr9:136949912-136949913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552908051	chr9:136949952-136949953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577547770	chr9:136949953-136949954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545024036	chr9:136949958-136949959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563365973	chr9:136949959-136949960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138154207	chr9:136949972-136949973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542798458	chr9:136950062-136950063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561073199	chr9:136950078-136950079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528362104	chr9:136950117-136950118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2427950	chr9:136950118-136950119	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs370315065	chr9:136950122-136950123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144310929	chr9:136950176-136950177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57225288	chr9:136950209-136950210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2427951	chr9:136950303-136950304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs551792984	chr9:136950347-136950348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569809800	chr9:136950355-136950356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537149146	chr9:136950458-136950459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555497889	chr9:136950466-136950467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567532987	chr9:136950488-136950489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78220342	chr9:136950499-136950500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184996697	chr9:136950505-136950506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553377453	chr9:136950506-136950507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77782345	chr9:136950536-136950537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556012383	chr9:136950546-136950547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78752804	chr9:136950560-136950561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572639031	chr9:136950561-136950562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190241928	chr9:136950568-136950569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182587506	chr9:136950576-136950577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561037428	chr9:136950640-136950641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528250405	chr9:136950644-136950645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540453220	chr9:136950646-136950647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565023503	chr9:136950647-136950648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2506696	chr9:136950691-136950692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs185360049	chr9:136950729-136950730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563350269	chr9:136950773-136950774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533210003	chr9:136950814-136950815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575401149	chr9:136950821-136950822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549046431	chr9:136950886-136950887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35259020	chr9:136950920-136950921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201481075	chr9:136950921-136950922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377567310	chr9:136950925-136950926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567457640	chr9:136950954-136950955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136949600-136951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:136953000-136953200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr9:136953000-136953400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:136953000-136953600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:136953000-136953600	Enhancers	NHEK	skin
6	chr9:136953000-136953800	Enhancers	Esophagus	oesophagus
7	chr9:136953200-136953400	Enhancers	Gastric	stomach
8	chr9:136953200-136953600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:136953200-136953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:136953200-136953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:136953200-136953600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr9:136953400-136953600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:136953400-136968400	Weak transcription	Gastric	stomach
14	chr9:136953600-136955200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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