Variant report

Variant	nsv613130
Chromosome Location	chr9:2261944-2274492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
2	chr9:2266333..2269283-chr9:2269848..2272589,2	K562	blood:
3	chr9:2244966..2246945-chr9:2263682..2266605,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-5	chr9:2264485-2264628	NONHSAT129991
2	lnc-SMARCA2-5	chr9:2273475-2274167	NONHSAT129991

Extended variants
information (count: 738 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs942399	chr9:2261944-2261945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189649961	chr9:2261949-2261950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552571773	chr9:2261970-2261971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565735863	chr9:2262047-2262048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151310015	chr9:2262080-2262081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191974719	chr9:2262081-2262082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12005466	chr9:2262085-2262086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140530513	chr9:2262104-2262105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536421069	chr9:2262121-2262122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147069037	chr9:2262123-2262124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538347429	chr9:2262124-2262125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184263629	chr9:2262154-2262155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189072589	chr9:2262157-2262158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181855252	chr9:2262159-2262160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556336322	chr9:2262166-2262167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs731468	chr9:2262183-2262184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368991946	chr9:2262192-2262193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114307429	chr9:2262229-2262230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187418855	chr9:2262248-2262249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563712776	chr9:2262250-2262251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548731484	chr9:2262252-2262253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567287073	chr9:2262297-2262298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189279670	chr9:2262340-2262341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs731467	chr9:2262357-2262358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180900125	chr9:2262379-2262380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528435933	chr9:2262404-2262405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547312701	chr9:2262405-2262406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76552837	chr9:2262409-2262410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536141332	chr9:2262444-2262445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549990248	chr9:2262475-2262476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569747646	chr9:2262487-2262488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546236980	chr9:2262498-2262499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566122440	chr9:2262530-2262531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538730747	chr9:2262544-2262545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186391924	chr9:2262553-2262554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191083624	chr9:2262555-2262556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142349581	chr9:2262562-2262563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181378599	chr9:2262571-2262572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575109808	chr9:2262578-2262579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186046861	chr9:2262617-2262618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563951356	chr9:2262641-2262642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190822739	chr9:2262646-2262647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546297559	chr9:2262668-2262669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558580033	chr9:2262669-2262670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559394466	chr9:2262694-2262695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373134566	chr9:2262758-2262759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147002458	chr9:2262759-2262760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183216524	chr9:2262787-2262788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188809102	chr9:2262799-2262800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561739072	chr9:2262803-2262804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2248600-2263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:2254600-2262800	Weak transcription	Ovary	ovary
3	chr9:2255400-2262800	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:2256200-2263200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:2257400-2275000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:2257600-2262800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:2258000-2263000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:2258200-2263000	Weak transcription	Primary B cells from cord blood	blood
9	chr9:2258400-2266200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:2260400-2262000	Enhancers	A549	lung
11	chr9:2260400-2263600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:2260800-2262400	Weak transcription	Fetal Brain Male	brain
13	chr9:2261000-2262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:2261000-2262200	Weak transcription	Brain Substantia Nigra	brain
15	chr9:2261000-2262800	Weak transcription	Fetal Brain Female	brain
16	chr9:2261000-2268000	Weak transcription	Left Ventricle	heart
17	chr9:2261200-2262400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:2261200-2262400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:2261200-2262600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:2261200-2262800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:2261200-2267200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:2261400-2262200	Weak transcription	Brain Germinal Matrix	brain
23	chr9:2261400-2263000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:2261400-2267800	Weak transcription	Psoas Muscle	Psoas
25	chr9:2261600-2262600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:2261600-2262600	Weak transcription	Osteobl	bone
27	chr9:2261600-2262800	Weak transcription	NH-A	brain
28	chr9:2261800-2262200	Weak transcription	Fetal Lung	lung
29	chr9:2261800-2263000	Weak transcription	Right Atrium	heart
30	chr9:2261800-2267000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:2261800-2267200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr9:2262000-2262400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:2262000-2263400	Enhancers	Fetal Stomach	stomach
34	chr9:2262200-2262400	Enhancers	Colon Smooth Muscle	Colon
35	chr9:2262200-2264000	Enhancers	Brain Germinal Matrix	brain
36	chr9:2262400-2262600	Enhancers	Brain Substantia Nigra	brain
37	chr9:2262400-2262800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:2262400-2263000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:2262400-2263400	Enhancers	Fetal Brain Male	brain
40	chr9:2262600-2262800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:2262600-2263000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:2262600-2263400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:2262800-2263000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:2262800-2263000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:2262800-2263000	Enhancers	Osteobl	bone
46	chr9:2262800-2263200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:2262800-2263200	Enhancers	Fetal Muscle Leg	muscle
48	chr9:2262800-2263200	Enhancers	Ovary	ovary
49	chr9:2262800-2263600	Enhancers	Fetal Brain Female	brain
50	chr9:2262800-2263800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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