Variant report

Variant	nsv9014
Chromosome Location	chr1:246394967-246400398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
2	chr1:246389393..246391368-chr1:246392967..246395959,3	K562	blood:
3	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:
4	chr1:246385164..246386821-chr1:246393908..246395594,2	K562	blood:
5	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:

Extended variants
information (count: 412 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535107470	chr1:246394969-246394970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10924581	chr1:246394970-246394971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35551031	chr1:246395007-246395008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548772795	chr1:246395052-246395053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184900998	chr1:246395054-246395055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12058843	chr1:246395076-246395077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557408338	chr1:246395081-246395082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577396866	chr1:246395089-246395090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546367050	chr1:246395105-246395106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76216839	chr1:246395109-246395110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398074821	chr1:246395110-246395111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563082550	chr1:246395190-246395191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531988595	chr1:246395259-246395260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142080216	chr1:246395306-246395307	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528414506	chr1:246395319-246395320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528966060	chr1:246395335-246395336	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527811186	chr1:246395346-246395347	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547941496	chr1:246395348-246395349	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189431319	chr1:246395354-246395355	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146328514	chr1:246395357-246395358	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549944996	chr1:246395407-246395408	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181078522	chr1:246395411-246395412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535705465	chr1:246395416-246395417	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554964642	chr1:246395423-246395424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565364160	chr1:246395426-246395427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs72774475	chr1:246395428-246395429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370626540	chr1:246395436-246395437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200774747	chr1:246395449-246395450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs201816546	chr1:246395452-246395453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200366488	chr1:246395453-246395454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201027428	chr1:246395454-246395455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185509245	chr1:246395458-246395459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368553415	chr1:246395469-246395470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114701909	chr1:246395473-246395474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559256447	chr1:246395479-246395480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114684782	chr1:246395493-246395494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139545873	chr1:246395498-246395499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115206955	chr1:246395503-246395504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189367885	chr1:246395545-246395546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs115637651	chr1:246395546-246395547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527721553	chr1:246395581-246395582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541428401	chr1:246395583-246395584	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564469971	chr1:246395660-246395661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2878076	chr1:246395662-246395663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552835973	chr1:246395751-246395752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181423107	chr1:246395764-246395765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563468131	chr1:246395767-246395768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34786509	chr1:246395784-246395785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115106934	chr1:246395804-246395805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548899082	chr1:246395816-246395817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246384000-246403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:246390000-246395000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:246392800-246395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:246393200-246403200	Weak transcription	Left Ventricle	heart
5	chr1:246395000-246395400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:246395000-246395800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:246395200-246395400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:246395400-246395600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:246395600-246395800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:246395800-246398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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