Variant report

Variant	nsv947365
Chromosome Location	chr1:196279294-196286170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
2	chr1:196115298..196117734-chr1:196279190..196280706,2	MCF-7	breast:
3	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
4	chr1:196117223..196118153-chr1:196278402..196279435,4	MCF-7	breast:

Extended variants
information (count: 267 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562476950	chr1:196279301-196279302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7552851	chr1:196279337-196279338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138536968	chr1:196279343-196279344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189283249	chr1:196279352-196279353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557080466	chr1:196279362-196279363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140269976	chr1:196279363-196279364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371607883	chr1:196279376-196279377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181645317	chr1:196279392-196279393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531218087	chr1:196279402-196279403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564096922	chr1:196279455-196279456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75801745	chr1:196279595-196279596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372614698	chr1:196279600-196279601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561786766	chr1:196279671-196279672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528949431	chr1:196279674-196279675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550903726	chr1:196279705-196279706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569430942	chr1:196279758-196279759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533485312	chr1:196279759-196279760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552036867	chr1:196279791-196279792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375871872	chr1:196279793-196279794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566790820	chr1:196279877-196279878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185082676	chr1:196279895-196279896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555297121	chr1:196279994-196279995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557017953	chr1:196280055-196280056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141731712	chr1:196280086-196280087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80231983	chr1:196280119-196280120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150572624	chr1:196280120-196280121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190127437	chr1:196280121-196280122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545811039	chr1:196280122-196280123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558097031	chr1:196280143-196280144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138633969	chr1:196280178-196280179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142919115	chr1:196280205-196280206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74136509	chr1:196280250-196280251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527934502	chr1:196280258-196280259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561628060	chr1:196280263-196280264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546127567	chr1:196280269-196280270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147236797	chr1:196280289-196280290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562974868	chr1:196280290-196280291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533591170	chr1:196280335-196280336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539623729	chr1:196280337-196280338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113470901	chr1:196280385-196280386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560418821	chr1:196280390-196280391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181323593	chr1:196280403-196280404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140725008	chr1:196280452-196280453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144672620	chr1:196280475-196280476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186326220	chr1:196280482-196280483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189852343	chr1:196280496-196280497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180860803	chr1:196280516-196280517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144732077	chr1:196280559-196280560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148544694	chr1:196280578-196280579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554145626	chr1:196280593-196280594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196249200-196281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:196256600-196302800	Weak transcription	Ovary	ovary
3	chr1:196266200-196309600	Weak transcription	Fetal Kidney	kidney
4	chr1:196266800-196284400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:196268800-196304400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:196273000-196313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:196273400-196282000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:196273400-196284400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:196273800-196281600	Weak transcription	Liver	Liver
10	chr1:196275800-196282000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:196275800-196313000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:196276000-196282000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:196276000-196305000	Weak transcription	Fetal Lung	lung
14	chr1:196276400-196281800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:196276600-196281000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:196276600-196281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:196276600-196281600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:196276800-196281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:196276800-196281200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:196277400-196281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:196277600-196280800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:196277800-196281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:196278600-196285400	Weak transcription	Aorta	Aorta
24	chr1:196279400-196314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:196280800-196282800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:196281000-196281200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:196281000-196281600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:196281000-196282600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:196281000-196282600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:196281200-196281400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:196281200-196281600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:196281200-196282600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:196281400-196281600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:196281400-196281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:196281600-196281800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:196281600-196282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:196281600-196282600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:196281600-196282600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:196281600-196285200	Strong transcription	Liver	Liver
40	chr1:196281800-196282200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:196281800-196282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:196281800-196282600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:196282000-196282400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:196282000-196282400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:196282000-196285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:196282200-196282400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:196282200-196282400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:196282400-196282600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:196282600-196284200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:196282600-196284200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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