Variant report

Variant	nsv818689
Chromosome Location	chr1:191349614-191371865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
2	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
3	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
4	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:

Extended variants
information (count: 376 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1246726	chr1:191349614-191349615	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549375036	chr1:191349619-191349620	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542823692	chr1:191349656-191349657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559490266	chr1:191349698-191349699	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187389862	chr1:191349718-191349719	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551639340	chr1:191349727-191349728	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571180902	chr1:191349733-191349734	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373765639	chr1:191349763-191349764	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139928967	chr1:191349805-191349806	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369179247	chr1:191349814-191349815	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111795704	chr1:191349876-191349877	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190878284	chr1:191349883-191349884	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182355788	chr1:191349971-191349972	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186684131	chr1:191349974-191349975	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34825100	chr1:191350002-191350003	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563299467	chr1:191350014-191350015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12024097	chr1:191350035-191350036	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189772056	chr1:191350046-191350047	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12024099	chr1:191350061-191350062	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368708717	chr1:191350073-191350074	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553228232	chr1:191350163-191350164	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12024147	chr1:191350171-191350172	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12024153	chr1:191350201-191350202	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145517557	chr1:191350205-191350206	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148439728	chr1:191350215-191350216	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12024185	chr1:191350241-191350242	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12024188	chr1:191350287-191350288	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12024189	chr1:191350292-191350293	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12024190	chr1:191350298-191350299	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558871657	chr1:191350320-191350321	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150926209	chr1:191350327-191350328	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71107440	chr1:191350337-191350338	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200661905	chr1:191350338-191350339	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369290334	chr1:191350342-191350343	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577997486	chr1:191350348-191350349	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537394111	chr1:191350354-191350355	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543792288	chr1:191350387-191350388	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539785123	chr1:191350428-191350429	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574099336	chr1:191350511-191350512	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183406999	chr1:191350515-191350516	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113744248	chr1:191350524-191350525	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187944144	chr1:191350550-191350551	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528638484	chr1:191350572-191350573	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201776820	chr1:191350592-191350593	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545341049	chr1:191350608-191350609	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565563486	chr1:191350675-191350676	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531069502	chr1:191350676-191350677	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193202105	chr1:191350697-191350698	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567124064	chr1:191350705-191350706	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185004769	chr1:191350710-191350711	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191345000-191353800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191348800-191351000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:191349400-191350200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:191349400-191352200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:191349800-191350200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:191350200-191351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:191351400-191351600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr1:191354200-191354600	Enhancers	Fetal Brain Male	brain
9	chr1:191356800-191358400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:191357000-191357400	ZNF genes & repeats	Aorta	Aorta
11	chr1:191363600-191363800	Active TSS	Gastric	stomach
12	chr1:191367200-191374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:191367600-191368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:191370800-191371600	Enhancers	Pancreatic Islets	Pancreatic Islet

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