Variant report

Variant	nsv466084
Chromosome Location	chr9:2681397-2710537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2682099..2684421-chr9:2688632..2690767,2	MCF-7	breast:
2	chr9:2682099..2684421-chr9:2688632..2690767,2	MCF-7	breast:
3	chr9:2695521..2698232-chr9:3222806..3225730,2	K562	blood:
4	chr9:2708882..2710546-chr9:2712571..2714429,2	K562	blood:
5	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:
6	chr9:2677676..2680039-chr9:2680845..2683577,2	K562	blood:
7	chr9:2697672..2699456-chr9:2700934..2702755,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-4	chr9:2700367-2700587	NONHSAT130005
2	lnc-KIAA0020-4	chr9:2704045-2704737	NONHSAT130005
3	lnc-KIAA0020-4	chr9:2683510-2684133	NONHSAT130005
4	lnc-KIAA0020-4	chr9:2697878-2698075	NONHSAT130005

No data

Extended variants
information (count: 1633 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1633 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7870258	chr9:2681397-2681398	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148464500	chr9:2681402-2681403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373321028	chr9:2681403-2681404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113518326	chr9:2681412-2681413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6475931	chr9:2681427-2681428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145497535	chr9:2681428-2681429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7870360	chr9:2681430-2681431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs555155897	chr9:2681431-2681432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147232588	chr9:2681447-2681448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6475932	chr9:2681470-2681471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372830832	chr9:2681532-2681533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568540714	chr9:2681555-2681556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4339695	chr9:2681559-2681560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535496908	chr9:2681572-2681573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540107053	chr9:2681578-2681579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554055755	chr9:2681601-2681602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188450649	chr9:2681604-2681605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542240973	chr9:2681605-2681606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58392928	chr9:2681629-2681630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370785337	chr9:2681634-2681635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555190527	chr9:2681659-2681660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575378227	chr9:2681660-2681661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544311592	chr9:2681661-2681662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564297094	chr9:2681664-2681665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533371725	chr9:2681696-2681697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546945375	chr9:2681704-2681705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560875753	chr9:2681705-2681706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528862195	chr9:2681724-2681725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193210128	chr9:2681725-2681726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534914873	chr9:2681735-2681736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568963306	chr9:2681746-2681747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536720080	chr9:2681754-2681755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551503688	chr9:2681757-2681758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372021201	chr9:2681766-2681767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571438875	chr9:2681780-2681781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534004749	chr9:2681792-2681793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553765155	chr9:2681794-2681795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373491855	chr9:2681843-2681844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535475413	chr9:2681884-2681885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555303369	chr9:2681885-2681886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183931132	chr9:2681903-2681904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149948345	chr9:2681940-2681941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34375411	chr9:2681950-2681951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564258343	chr9:2681958-2681959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186765147	chr9:2681972-2681973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540851457	chr9:2681992-2681993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377732851	chr9:2681993-2681994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560619690	chr9:2681997-2681998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114134330	chr9:2682016-2682017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549421028	chr9:2682024-2682025	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:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2678200-2686800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:2678400-2681800	Weak transcription	HepG2	liver
3	chr9:2679400-2681600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:2679400-2692400	Weak transcription	Psoas Muscle	Psoas
5	chr9:2680400-2687600	Weak transcription	Aorta	Aorta
6	chr9:2681200-2681400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:2681800-2682400	Enhancers	HepG2	liver
8	chr9:2685200-2685600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:2685600-2686800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:2686600-2687000	Enhancers	Esophagus	oesophagus
11	chr9:2686800-2687000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:2686800-2687000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:2686800-2687200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:2686800-2687200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:2686800-2687200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:2686800-2687200	Enhancers	Placenta	Placenta
17	chr9:2686800-2687200	Enhancers	Right Atrium	heart
18	chr9:2686800-2687400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:2686800-2687400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:2686800-2687400	Enhancers	Ovary	ovary
21	chr9:2686800-2688600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:2687000-2687200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:2687000-2687200	Enhancers	Gastric	stomach
24	chr9:2687000-2687400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:2687000-2689000	Weak transcription	Esophagus	oesophagus
26	chr9:2687000-2689600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:2687200-2690400	Weak transcription	Right Atrium	heart
28	chr9:2687200-2693200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:2687400-2688800	Weak transcription	Ovary	ovary
30	chr9:2687400-2690600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:2688200-2691400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:2688600-2689000	Enhancers	Fetal Heart	heart
33	chr9:2688600-2690400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:2688600-2702400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:2688800-2689600	Enhancers	Ovary	ovary
36	chr9:2689000-2689200	Enhancers	Esophagus	oesophagus
37	chr9:2689000-2689200	Flanking Active TSS	Fetal Heart	heart
38	chr9:2689000-2689600	Enhancers	Left Ventricle	heart
39	chr9:2689200-2692200	Enhancers	Fetal Heart	heart
40	chr9:2689600-2690000	Weak transcription	Left Ventricle	heart
41	chr9:2689600-2691800	Weak transcription	Ovary	ovary
42	chr9:2689800-2700200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:2690000-2690200	Enhancers	Right Ventricle	heart
44	chr9:2690000-2691200	Enhancers	Left Ventricle	heart
45	chr9:2690000-2692600	Enhancers	HUVEC	blood vessel
46	chr9:2690000-2702600	Weak transcription	Primary T cells from cord blood	blood
47	chr9:2690200-2690400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:2690200-2690600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:2690400-2690800	Enhancers	Right Atrium	heart
50	chr9:2690400-2691000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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