Variant report

Variant	nsv548607
Chromosome Location	chr1:191699579-191731238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
2	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
3	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
4	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:
5	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
6	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
7	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
8	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
9	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:
10	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
11	chr1:191722550..191725173-chr1:191726760..191728509,2	K562	blood:
12	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
13	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
14	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
15	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
16	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:

No data

Extended variants
information (count: 174 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111771810	chr1:191699801-191699802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377138036	chr1:191699815-191699816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560400065	chr1:191699823-191699824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184507452	chr1:191699825-191699826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144714005	chr1:191699874-191699875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565230663	chr1:191699890-191699891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530939721	chr1:191700040-191700041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372866942	chr1:191700075-191700076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs536821927	chr1:191700106-191700107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560268593	chr1:191700113-191700114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550544809	chr1:191700180-191700181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs187337556	chr1:191700274-191700275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527791402	chr1:191700294-191700295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530055201	chr1:191700297-191700298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140131477	chr1:191700306-191700307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192642821	chr1:191700349-191700350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538856974	chr1:191700422-191700423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs559135387	chr1:191700424-191700425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372049579	chr1:191700458-191700459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537908690	chr1:191700460-191700461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs386369137	chr1:191700470-191700471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34306832	chr1:191700471-191700472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561523980	chr1:191700472-191700473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184631886	chr1:191700501-191700502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376278581	chr1:191700521-191700522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574438700	chr1:191700560-191700561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs207460885	chr1:191700571-191700572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12124408	chr1:191700598-191700599	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs833975	chr1:191700621-191700622	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577113150	chr1:191700625-191700626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371123201	chr1:191700654-191700655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72727166	chr1:191700698-191700699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535764709	chr1:191700707-191700708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190285162	chr1:191700716-191700717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192750044	chr1:191700733-191700734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531416318	chr1:191700760-191700761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544268657	chr1:191700765-191700766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561048373	chr1:191700775-191700776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549409999	chr1:191702031-191702032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542785631	chr1:191702044-191702045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569601142	chr1:191702081-191702082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535332816	chr1:191702096-191702097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555267720	chr1:191702154-191702155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572732914	chr1:191702194-191702195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs186218553	chr1:191702212-191702213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531653927	chr1:191702217-191702218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188984329	chr1:191702226-191702227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532637410	chr1:191702355-191702356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554231406	chr1:191702360-191702361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552201099	chr1:191702366-191702367	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191699800-191700800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191702000-191703000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:191702800-191703200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:191703200-191704400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:191704400-191704600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:191725600-191726600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:191725600-191727000	Enhancers	Dnd41	blood
8	chr1:191725800-191726600	Enhancers	K562	blood

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