Variant report

Variant	nsv892686
Chromosome Location	chr9:18273100-18328341
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-ADAMTSL1-1	chr9:18283558-18283630	NONHSAT130306
2	lnc-ADAMTSL1-1	chr9:18288533-18288954	NONHSAT130306
3	lnc-ADAMTSL1-1	chr9:18290279-18290518	NONHSAT130306

Extended variants
information (count: 2618 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2618 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2383068	chr9:18273100-18273101	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575506046	chr9:18273113-18273114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187994161	chr9:18273149-18273150	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539255142	chr9:18273155-18273156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200110695	chr9:18273164-18273165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558984862	chr9:18273175-18273176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375479424	chr9:18273188-18273189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2383069	chr9:18273224-18273225	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541402877	chr9:18273240-18273241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35622845	chr9:18273268-18273269	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138990566	chr9:18273280-18273281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74717460	chr9:18273287-18273288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201695785	chr9:18273299-18273300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79384349	chr9:18273302-18273303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113754819	chr9:18273314-18273315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2809853	chr9:18273321-18273322	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564191211	chr9:18273322-18273323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149356890	chr9:18273327-18273328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144590766	chr9:18273328-18273329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568002290	chr9:18273329-18273330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200443287	chr9:18273332-18273333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201001493	chr9:18273337-18273338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs202243574	chr9:18273338-18273339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374816558	chr9:18273339-18273340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550417219	chr9:18273370-18273371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568836205	chr9:18273375-18273376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7023176	chr9:18273439-18273440	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557704781	chr9:18273449-18273450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570903466	chr9:18273480-18273481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34536464	chr9:18273553-18273554	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553322844	chr9:18273568-18273569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112805188	chr9:18273579-18273580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541341543	chr9:18273589-18273590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559589847	chr9:18273597-18273598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73643212	chr9:18273610-18273611	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529825701	chr9:18273611-18273612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148070170	chr9:18273646-18273647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs548348277	chr9:18273672-18273673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs193029762	chr9:18273684-18273685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528179030	chr9:18273685-18273686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369911980	chr9:18273695-18273696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539905165	chr9:18273701-18273702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7023576	chr9:18273711-18273712	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528833717	chr9:18273712-18273713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550180288	chr9:18273715-18273716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527313505	chr9:18273716-18273717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533087480	chr9:18273720-18273721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551552196	chr9:18273723-18273724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566592110	chr9:18273728-18273729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534000732	chr9:18273752-18273753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18269400-18274400	Weak transcription	HUVEC	blood vessel
2	chr9:18271000-18273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:18272600-18274400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:18273000-18274600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:18273800-18275200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr9:18274000-18274200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:18274200-18275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:18274400-18275600	Enhancers	HUVEC	blood vessel
9	chr9:18274400-18276200	Enhancers	NHEK	skin
10	chr9:18274400-18276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:18274600-18275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:18274600-18276000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:18274800-18275200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:18274800-18275200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:18274800-18275200	Enhancers	Adipose Nuclei	Adipose
16	chr9:18274800-18275200	Enhancers	Brain Germinal Matrix	brain
17	chr9:18274800-18275200	Enhancers	Fetal Heart	heart
18	chr9:18275200-18276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:18275200-18278400	Weak transcription	Fetal Heart	heart
20	chr9:18276400-18277400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:18277400-18283000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:18278400-18278600	ZNF genes & repeats	Fetal Heart	heart
23	chr9:18278600-18279800	Weak transcription	Fetal Heart	heart
24	chr9:18279800-18280400	Active TSS	Gastric	stomach
25	chr9:18285600-18286200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:18285600-18286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:18285800-18286400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:18285800-18286400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:18285800-18286600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:18286400-18286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:18288000-18288200	Enhancers	Aorta	Aorta
32	chr9:18288000-18289000	Enhancers	Colon Smooth Muscle	Colon
33	chr9:18288600-18290400	Weak transcription	Aorta	Aorta
34	chr9:18290400-18290600	ZNF genes & repeats	Aorta	Aorta
35	chr9:18290600-18291000	Weak transcription	Aorta	Aorta
36	chr9:18291400-18291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:18293400-18298600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:18293800-18294600	Enhancers	Fetal Heart	heart
39	chr9:18294000-18294600	Enhancers	Adipose Nuclei	Adipose
40	chr9:18294000-18296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:18294200-18295200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:18294400-18294800	Enhancers	Right Atrium	heart
43	chr9:18294400-18294800	Enhancers	HUVEC	blood vessel
44	chr9:18294400-18295200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:18294400-18295200	Enhancers	Left Ventricle	heart
46	chr9:18294400-18295200	Enhancers	Lung	lung
47	chr9:18294600-18297000	Weak transcription	Adipose Nuclei	Adipose
48	chr9:18294600-18297000	Weak transcription	Fetal Heart	heart
49	chr9:18294800-18295000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:18294800-18296600	Weak transcription	HUVEC	blood vessel

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