Variant report

Variant	nsv1020662
Chromosome Location	chr9:18270455-18295314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL1-1	chr9:18288533-18288954	NONHSAT130306
2	lnc-ADAMTSL1-1	chr9:18283558-18283630	NONHSAT130306
3	lnc-ADAMTSL1-1	chr9:18290279-18290518	NONHSAT130306

Extended variants
information (count: 1008 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16936498	chr9:18270455-18270456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7868061	chr9:18270486-18270487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539969812	chr9:18270514-18270515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558132870	chr9:18270515-18270516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180808797	chr9:18270521-18270522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566794764	chr9:18270526-18270527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534209233	chr9:18270539-18270540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35146739	chr9:18270542-18270543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555737738	chr9:18270569-18270570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574298417	chr9:18270594-18270595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13288027	chr9:18270599-18270600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13287745	chr9:18270611-18270612	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150272334	chr9:18270627-18270628	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544743472	chr9:18270629-18270630	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79589705	chr9:18270670-18270671	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs138867954	chr9:18270681-18270682	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542627820	chr9:18270708-18270709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560988520	chr9:18270731-18270732	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377740374	chr9:18270732-18270733	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10810940	chr9:18270792-18270793	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549977816	chr9:18270798-18270799	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565126632	chr9:18270811-18270812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533458454	chr9:18270822-18270823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78809986	chr9:18270842-18270843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16936500	chr9:18270854-18270855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10810941	chr9:18270864-18270865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13289416	chr9:18270885-18270886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs112899003	chr9:18270910-18270911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13288253	chr9:18270920-18270921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556328345	chr9:18270922-18270923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577774311	chr9:18270937-18270938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538848601	chr9:18270969-18270970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557622535	chr9:18271000-18271001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561781494	chr9:18271030-18271031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185261083	chr9:18271052-18271053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10963546	chr9:18271109-18271110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148984853	chr9:18271205-18271206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565191197	chr9:18271228-18271229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113104080	chr9:18271265-18271266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576403573	chr9:18271266-18271267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543783065	chr9:18271269-18271270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13294282	chr9:18271319-18271320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188466480	chr9:18271336-18271337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181067689	chr9:18271349-18271350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13292897	chr9:18271394-18271395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560350467	chr9:18271421-18271422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527821055	chr9:18271440-18271441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13293064	chr9:18271451-18271452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13293269	chr9:18271570-18271571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185550778	chr9:18271574-18271575	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	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18269200-18271000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:18269400-18270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:18269400-18274400	Weak transcription	HUVEC	blood vessel
4	chr9:18270200-18272600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:18270600-18270800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:18270800-18272200	Weak transcription	Osteobl	bone
7	chr9:18270800-18272600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:18271000-18273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:18272600-18272800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18272600-18274400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:18273000-18274600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:18273800-18275200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:18274000-18274200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:18274200-18275200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:18274400-18275600	Enhancers	HUVEC	blood vessel
16	chr9:18274400-18276200	Enhancers	NHEK	skin
17	chr9:18274400-18276400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:18274600-18275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:18274600-18276000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:18274800-18275200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:18274800-18275200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:18274800-18275200	Enhancers	Adipose Nuclei	Adipose
23	chr9:18274800-18275200	Enhancers	Brain Germinal Matrix	brain
24	chr9:18274800-18275200	Enhancers	Fetal Heart	heart
25	chr9:18275200-18276800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:18275200-18278400	Weak transcription	Fetal Heart	heart
27	chr9:18276400-18277400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:18277400-18283000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:18278400-18278600	ZNF genes & repeats	Fetal Heart	heart
30	chr9:18278600-18279800	Weak transcription	Fetal Heart	heart
31	chr9:18279800-18280400	Active TSS	Gastric	stomach
32	chr9:18285600-18286200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:18285600-18286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:18285800-18286400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:18285800-18286400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:18285800-18286600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr9:18286400-18286600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:18288000-18288200	Enhancers	Aorta	Aorta
39	chr9:18288000-18289000	Enhancers	Colon Smooth Muscle	Colon
40	chr9:18288600-18290400	Weak transcription	Aorta	Aorta
41	chr9:18290400-18290600	ZNF genes & repeats	Aorta	Aorta
42	chr9:18290600-18291000	Weak transcription	Aorta	Aorta
43	chr9:18291400-18291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:18293400-18298600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:18293800-18294600	Enhancers	Fetal Heart	heart
46	chr9:18294000-18294600	Enhancers	Adipose Nuclei	Adipose
47	chr9:18294000-18296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:18294200-18295200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:18294400-18294800	Enhancers	Right Atrium	heart
50	chr9:18294400-18294800	Enhancers	HUVEC	blood vessel

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