Variant report

Variant	nsv523712
Chromosome Location	chr1:210789920-210790214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7541034	chr1:210789920-210789921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570655942	chr1:210789934-210789935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537990381	chr1:210789967-210789968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143909137	chr1:210789976-210789977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140547875	chr1:210789991-210789992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113955037	chr1:210790014-210790015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143797874	chr1:210790045-210790046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568127736	chr1:210790049-210790050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113108946	chr1:210790063-210790064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117231574	chr1:210790069-210790070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180699670	chr1:210790079-210790080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540118553	chr1:210790093-210790094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150493104	chr1:210790096-210790097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576331447	chr1:210790105-210790106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543572912	chr1:210790107-210790108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561963474	chr1:210790108-210790109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573771155	chr1:210790110-210790111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541196204	chr1:210790120-210790121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559688152	chr1:210790157-210790158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533455817	chr1:210790186-210790187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533215382	chr1:210790188-210790189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76760432	chr1:210790190-210790191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551629354	chr1:210790191-210790192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531653285	chr1:210790192-210790193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573914943	chr1:210790196-210790197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564259129	chr1:210790197-210790198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4488079	chr1:210790214-210790215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210781400-210791000	Weak transcription	HSMMtube	muscle
2	chr1:210789800-210791800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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