Variant report

Variant	nsv525743
Chromosome Location	chr9:18312578-18359014
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	chr13:100230633..100231487-chr9:18324433..18324983,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM154A-4	chr9:18352081-18352218	NONHSAT130307
2	lnc-FAM154A-4	chr9:18350595-18350693	NONHSAT130307

Extended variants
information (count: 2134 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2134 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4961633	chr9:18312578-18312579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545544056	chr9:18312586-18312587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58983810	chr9:18312631-18312632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572510775	chr9:18312633-18312634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180855059	chr9:18312641-18312642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561521777	chr9:18312665-18312666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79708277	chr9:18312674-18312675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550318614	chr9:18312697-18312698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184602480	chr9:18312702-18312703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532213037	chr9:18312730-18312731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368845985	chr9:18312791-18312792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567604155	chr9:18312793-18312794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547126404	chr9:18312794-18312795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565329300	chr9:18312860-18312861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188206980	chr9:18312898-18312899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547792225	chr9:18312902-18312903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79057722	chr9:18312923-18312924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78218518	chr9:18312956-18312957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558693941	chr9:18312984-18312985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144876467	chr9:18312989-18312990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377480641	chr9:18312991-18312992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181086833	chr9:18313000-18313001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554356557	chr9:18313001-18313002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550226242	chr9:18313003-18313004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576261272	chr9:18313013-18313014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149039568	chr9:18313031-18313032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185475311	chr9:18313033-18313034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12555902	chr9:18313047-18313048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576648920	chr9:18313165-18313166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543788288	chr9:18313170-18313171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72686842	chr9:18313201-18313202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143804956	chr9:18313208-18313209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73428988	chr9:18313213-18313214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568289107	chr9:18313229-18313230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74659162	chr9:18313325-18313326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560547147	chr9:18313330-18313331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529754983	chr9:18313331-18313332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547754859	chr9:18313348-18313349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190331575	chr9:18313361-18313362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530816420	chr9:18313365-18313366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572561361	chr9:18313388-18313389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182140525	chr9:18313437-18313438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75562438	chr9:18313451-18313452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536490205	chr9:18313478-18313479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553216120	chr9:18313489-18313490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10113897	chr9:18313492-18313493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs78620515	chr9:18313500-18313501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377633926	chr9:18313518-18313519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28409920	chr9:18313546-18313547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554927564	chr9:18313547-18313548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18305400-18315600	Weak transcription	Gastric	stomach
2	chr9:18306000-18315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:18306000-18315200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:18311400-18312800	Enhancers	Fetal Heart	heart
5	chr9:18312400-18312800	Enhancers	Fetal Lung	lung
6	chr9:18313800-18314800	Enhancers	HUVEC	blood vessel
7	chr9:18314400-18314800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:18314400-18314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:18314800-18315200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:18314800-18317600	Weak transcription	HUVEC	blood vessel
11	chr9:18315200-18315800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:18315200-18315800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:18315200-18315800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:18315400-18315800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:18315600-18315800	Enhancers	Gastric	stomach
16	chr9:18315800-18317600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:18317600-18318200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:18317600-18318400	Enhancers	HUVEC	blood vessel
19	chr9:18317600-18319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:18317800-18318200	Enhancers	Hela-S3	cervix
21	chr9:18317800-18318400	Enhancers	NHDF-Ad	bronchial
22	chr9:18318400-18320000	Weak transcription	HUVEC	blood vessel
23	chr9:18319000-18319200	Enhancers	Aorta	Aorta
24	chr9:18319000-18319400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:18319400-18320600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:18319800-18320000	Enhancers	Aorta	Aorta
27	chr9:18320000-18320400	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:18320000-18320400	Enhancers	HUVEC	blood vessel
29	chr9:18320600-18325200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:18323600-18332000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:18325000-18325400	Enhancers	NHDF-Ad	bronchial
32	chr9:18325000-18328800	Enhancers	Hela-S3	cervix
33	chr9:18325200-18325600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:18325200-18325600	Active TSS	Fetal Heart	heart
35	chr9:18325200-18326000	Enhancers	Osteobl	bone
36	chr9:18325400-18326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:18325400-18327200	Weak transcription	NHDF-Ad	bronchial
38	chr9:18325600-18325800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:18325600-18327200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:18325600-18334200	Weak transcription	Fetal Heart	heart
41	chr9:18325800-18326000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr9:18325800-18326000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr9:18325800-18326000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:18325800-18326000	Enhancers	HSMM	muscle
45	chr9:18325800-18326000	Enhancers	HSMMtube	muscle
46	chr9:18325800-18326000	Enhancers	K562	blood
47	chr9:18325800-18326800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:18326000-18326400	Weak transcription	Osteobl	bone
49	chr9:18326000-18327200	Weak transcription	HSMM	muscle
50	chr9:18326000-18333200	Weak transcription	H9 Cell Line	embryonic stem cell

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