Variant report

Variant	nsv946446
Chromosome Location	chr1:159197239-159198253
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	chr1:159190196..159193032-chr1:159194970..159197300,2	K562	blood:
2	chr1:159195936..159198032-chr1:159199645..159201291,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527287287	chr1:159197393-159197394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552291516	chr1:159197425-159197426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570441127	chr1:159197457-159197458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531003923	chr1:159197475-159197476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187157706	chr1:159197637-159197638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192510316	chr1:159197650-159197651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549897602	chr1:159197669-159197670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562998958	chr1:159197690-159197691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551216064	chr1:159197692-159197693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576213043	chr1:159197783-159197784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35101337	chr1:159197817-159197818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114838553	chr1:159197844-159197845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368494746	chr1:159197860-159197861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141022783	chr1:159197884-159197885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548538062	chr1:159197914-159197915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112062526	chr1:159197946-159197947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533930875	chr1:159197961-159197962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183903771	chr1:159197970-159197971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11265151	chr1:159197999-159198000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544266384	chr1:159198025-159198026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555950393	chr1:159198036-159198037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574247102	chr1:159198070-159198071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187723489	chr1:159198126-159198127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542154212	chr1:159198153-159198154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560179819	chr1:159198171-159198172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74811595	chr1:159198181-159198182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373869522	chr1:159198209-159198210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71717768	chr1:159198211-159198212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	19602461	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159193000-159199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:159196800-159197600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:159197200-159197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:159197600-159201600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:159197800-159198000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:159197800-159198200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:159198000-159198200	Enhancers	Fetal Intestine Small	intestine
8	chr1:159198000-159198800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:159198000-159202000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:159198200-159198600	Enhancers	A549	lung

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