Variant report

Variant	nsv973427
Chromosome Location	chr9:2699385-2709019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:
2	chr9:2708882..2710546-chr9:2712571..2714429,2	K562	blood:
3	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-4	chr9:2704045-2704737	NONHSAT130005
2	lnc-KIAA0020-4	chr9:2700367-2700587	NONHSAT130005

Extended variants
information (count: 502 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549456676	chr9:2699388-2699389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569372165	chr9:2699397-2699398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538351211	chr9:2699423-2699424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7048719	chr9:2699451-2699452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190025009	chr9:2699461-2699462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569330937	chr9:2699471-2699472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554613029	chr9:2699475-2699476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574071095	chr9:2699476-2699477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372812867	chr9:2699479-2699480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543000610	chr9:2699505-2699506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556598206	chr9:2699528-2699529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182907544	chr9:2699551-2699552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545188562	chr9:2699557-2699558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565462365	chr9:2699591-2699592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7034098	chr9:2699606-2699607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs188413036	chr9:2699625-2699626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141614755	chr9:2699643-2699644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192740144	chr9:2699650-2699651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185180796	chr9:2699669-2699670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549320469	chr9:2699692-2699693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145944597	chr9:2699697-2699698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532217305	chr9:2699701-2699702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187393299	chr9:2699714-2699715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565863518	chr9:2699720-2699721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534553471	chr9:2699735-2699736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554755052	chr9:2699739-2699740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192342363	chr9:2699799-2699800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184845795	chr9:2699801-2699802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556565244	chr9:2699844-2699845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75822592	chr9:2699874-2699875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79994665	chr9:2699890-2699891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550298406	chr9:2699898-2699899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138994308	chr9:2699915-2699916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142248945	chr9:2699925-2699926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536125299	chr9:2699953-2699954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146363825	chr9:2699954-2699955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371113575	chr9:2699957-2699958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543739381	chr9:2699966-2699967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554530636	chr9:2700016-2700017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139379347	chr9:2700053-2700054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150005229	chr9:2700056-2700057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144299800	chr9:2700085-2700086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10812493	chr9:2700102-2700103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148748943	chr9:2700103-2700104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572837910	chr9:2700110-2700111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545013126	chr9:2700119-2700120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558318379	chr9:2700127-2700128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10812496	chr9:2700128-2700129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368435625	chr9:2700172-2700173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543984579	chr9:2700216-2700217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2688600-2702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:2689800-2700200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:2690000-2702600	Weak transcription	Primary T cells from cord blood	blood
4	chr9:2690600-2718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:2690800-2700600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:2691200-2710600	Weak transcription	Left Ventricle	heart
7	chr9:2692000-2709600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:2696600-2700600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:2697200-2722800	Weak transcription	HSMM	muscle
10	chr9:2698000-2717600	Weak transcription	Esophagus	oesophagus
11	chr9:2698200-2700400	Weak transcription	Adipose Nuclei	Adipose
12	chr9:2699000-2702200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:2699200-2701400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:2699400-2702200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:2699600-2700400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:2699800-2700000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:2699800-2700600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:2699800-2701000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:2699800-2701600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:2699800-2702000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr9:2700000-2701000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:2700000-2701400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:2700000-2701600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:2700200-2700600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:2700200-2701400	Enhancers	Fetal Heart	heart
26	chr9:2700200-2701800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:2700400-2701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:2700400-2701200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:2700400-2701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:2700400-2701600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:2700400-2702200	Enhancers	Adipose Nuclei	Adipose
32	chr9:2700600-2701200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr9:2700600-2701400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:2700600-2702400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:2700600-2727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:2700800-2701600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr9:2701000-2701200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr9:2701000-2702200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:2701200-2701400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:2701200-2701600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr9:2701200-2702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:2701400-2701600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr9:2701400-2702000	Weak transcription	Fetal Heart	heart
44	chr9:2701400-2702400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:2701600-2702400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr9:2701600-2702400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr9:2701600-2702800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:2701600-2727800	Weak transcription	Pancreas	Pancrea
49	chr9:2702000-2703000	Enhancers	Fetal Heart	heart
50	chr9:2702000-2709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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