Variant report

Variant	nsv982154
Chromosome Location	chr9:2333712-2335313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
2	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
3	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236404	chromatin interactions
ENSG00000147852	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549795677	chr9:2333761-2333762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140677149	chr9:2333770-2333771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540114984	chr9:2333780-2333781	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188706241	chr9:2333803-2333804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561825635	chr9:2333873-2333874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566348297	chr9:2333916-2333917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191802126	chr9:2333921-2333922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554822865	chr9:2333944-2333945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183557094	chr9:2333945-2333946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs914497	chr9:2333979-2333980	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12338751	chr9:2333996-2333997	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186762359	chr9:2334003-2334004	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576808145	chr9:2334031-2334032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149767374	chr9:2334035-2334036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564841526	chr9:2334057-2334058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564673751	chr9:2334108-2334109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145723209	chr9:2334144-2334145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541262902	chr9:2334155-2334156	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76656315	chr9:2334163-2334164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537464265	chr9:2334167-2334168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560923681	chr9:2334198-2334199	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529825410	chr9:2334211-2334212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560095924	chr9:2334230-2334231	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549886200	chr9:2334265-2334266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs34305402	chr9:2334269-2334270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74506894	chr9:2334305-2334306	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552156183	chr9:2334319-2334320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540302538	chr9:2334323-2334324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368289401	chr9:2334332-2334333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116900844	chr9:2334347-2334348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12344016	chr9:2334358-2334359	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528927469	chr9:2334392-2334393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548809698	chr9:2334428-2334429	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs568536516	chr9:2334483-2334484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2017987	chr9:2334516-2334517	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10965727	chr9:2334521-2334522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369491872	chr9:2334543-2334544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2018186	chr9:2334581-2334582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539458747	chr9:2334613-2334614	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570314460	chr9:2334678-2334679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548988772	chr9:2334720-2334721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs184078569	chr9:2334744-2334745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540948003	chr9:2334747-2334748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1109816	chr9:2334748-2334749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576215240	chr9:2334769-2334770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs142225975	chr9:2334780-2334781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535256708	chr9:2334783-2334784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543613636	chr9:2334812-2334813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs151183434	chr9:2334834-2334835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35023105	chr9:2334842-2334843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Esophageal cancer	21851588	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
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2333000-2334400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr9:2333000-2335200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:2334400-2335400	Enhancers	Fetal Muscle Trunk	muscle
4	chr9:2334800-2335600	Enhancers	Ovary	ovary
5	chr9:2334800-2335600	Enhancers	Right Atrium	heart
6	chr9:2334800-2339000	Enhancers	Adipose Nuclei	Adipose
7	chr9:2335000-2335400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr9:2335000-2335400	Enhancers	Spleen	Spleen
9	chr9:2335000-2335600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:2335000-2335600	Enhancers	Left Ventricle	heart
11	chr9:2335000-2335600	Enhancers	Right Ventricle	heart
12	chr9:2335200-2335400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:2335200-2335400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:2335200-2335600	Enhancers	Psoas Muscle	Psoas
15	chr9:2335200-2336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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