Variant report

Variant	nsv548602
Chromosome Location	chr1:191657350-191667913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
2	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
3	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
4	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
5	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
6	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:

Extended variants
information (count: 239 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16833692	chr1:191657350-191657351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186909816	chr1:191657388-191657389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191746217	chr1:191657466-191657467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565170547	chr1:191657479-191657480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201368460	chr1:191657492-191657493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532679764	chr1:191657513-191657514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552310672	chr1:191657525-191657526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569110455	chr1:191657530-191657531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112023878	chr1:191657583-191657584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143881219	chr1:191657591-191657592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182935534	chr1:191657641-191657642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532246956	chr1:191657643-191657644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568031746	chr1:191657650-191657651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376087470	chr1:191657683-191657684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369170142	chr1:191657709-191657710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533527358	chr1:191657754-191657755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553819532	chr1:191657755-191657756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73059093	chr1:191657778-191657779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539748456	chr1:191657801-191657802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556391777	chr1:191657803-191657804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576346768	chr1:191657835-191657836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544680825	chr1:191657863-191657864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142445695	chr1:191657864-191657865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77961712	chr1:191657878-191657879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377484040	chr1:191657949-191657950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560121545	chr1:191657953-191657954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532617937	chr1:191657971-191657972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367808410	chr1:191657992-191657993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75092110	chr1:191657993-191657994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531845052	chr1:191658004-191658005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548244829	chr1:191658005-191658006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114710648	chr1:191658009-191658010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527389865	chr1:191658013-191658014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547372276	chr1:191658034-191658035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201864789	chr1:191658036-191658037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78867089	chr1:191658039-191658040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570510073	chr1:191658054-191658055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140072901	chr1:191658057-191658058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556534743	chr1:191658082-191658083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201762887	chr1:191658084-191658085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139962295	chr1:191658085-191658086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71107458	chr1:191658086-191658087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371159016	chr1:191658125-191658126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114253029	chr1:191658139-191658140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12080045	chr1:191658150-191658151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376317560	chr1:191658151-191658152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369559875	chr1:191658163-191658164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555550482	chr1:191658223-191658224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574797689	chr1:191658227-191658228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540330781	chr1:191658297-191658298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191657200-191658200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191658200-191658400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:191661400-191662200	Enhancers	HSMMtube	muscle
4	chr1:191661600-191662200	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:191661600-191662200	Enhancers	Psoas Muscle	Psoas
6	chr1:191661600-191663800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:191662000-191662200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:191662800-191663200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:191663200-191664200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:191663800-191664200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:191664200-191664600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:191664600-191665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:191664600-191665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:191664600-191666000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:191664800-191665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:191664800-191665200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:191664800-191665600	Enhancers	Dnd41	blood
18	chr1:191665000-191665400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:191665000-191665400	Enhancers	Brain Substantia Nigra	brain
20	chr1:191665000-191665400	Enhancers	GM12878-XiMat	blood
21	chr1:191665000-191665800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:191665200-191665600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:191665400-191665800	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:191667400-191667800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:191667400-191668000	Enhancers	Fetal Lung	lung
26	chr1:191667800-191669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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