Variant report

Variant	nsv832159
Chromosome Location	chr1:193342434-193525072
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:41)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193358571..193360377-chr1:193363021..193364910,2	K562	blood:
2	chr1:193375656..193376570-chr1:193488846..193489455,3	MCF-7	breast:
3	chr1:193375519..193376599-chr1:193488682..193489851,8	MCF-7	breast:
4	chr1:193375633..193376607-chr1:193723998..193724709,3	MCF-7	breast:
5	chr1:193358877..193360708-chr1:193363021..193364568,2	K562	blood:
6	chr1:193377465..193379956-chr1:193382139..193384799,2	K562	blood:
7	chr1:193493923..193494721-chr17:57962460..57963113,2	MCF-7	breast:
8	chr1:193375656..193376570-chr1:193488846..193489455,3	MCF-7	breast:
9	chr1:193433123..193435612-chr1:193445959..193448673,2	K562	blood:
10	chr1:193375519..193376599-chr1:193488682..193489851,8	MCF-7	breast:
11	chr1:193362912..193364895-chr1:195930412..195933099,2	K562	blood:
12	chr1:193358571..193360377-chr1:193363021..193364910,2	K562	blood:
13	chr1:193377465..193381414-chr1:193382139..193384801,3	K562	blood:
14	chr1:193433123..193435612-chr1:193445959..193448673,2	K562	blood:
15	chr1:193457119..193458640-chr1:193461863..193464256,2	K562	blood:
16	chr1:193488720..193491226-chr1:193491231..193493311,2	K562	blood:
17	chr1:193441869..193444346-chr1:193454425..193457365,2	K562	blood:
18	chr1:193426586..193427494-chr1:193448215..193449023,2	MCF-7	breast:
19	chr1:193488720..193491226-chr1:193491231..193493311,2	K562	blood:
20	chr1:193375639..193376499-chr1:194264953..194265474,2	MCF-7	breast:
21	chr1:193437756..193439529-chr1:193439786..193441359,2	K562	blood:
22	chr1:193151861..193152615-chr1:193488795..193489647,2	MCF-7	breast:
23	chr1:193448710..193450675-chr1:193451195..193453760,2	K562	blood:
24	chr1:193410881..193413568-chr1:193421157..193422751,2	MCF-7	breast:
25	chr1:193469373..193472301-chr1:193476397..193478331,2	K562	blood:
26	chr1:193441869..193444346-chr1:193454425..193457365,2	K562	blood:
27	chr1:193448710..193450675-chr1:193451195..193453760,2	K562	blood:
28	chr1:193447947..193450632-chr1:193457523..193459176,2	K562	blood:
29	chr1:193457119..193458640-chr1:193461863..193464256,2	K562	blood:
30	chr1:193377465..193379956-chr1:193382139..193384799,2	K562	blood:
31	chr1:193511756..193514189-chr1:193514613..193516448,2	K562	blood:
32	chr1:193511756..193514189-chr1:193514613..193516448,2	K562	blood:
33	chr1:193426910..193427495-chr1:193888652..193889585,2	MCF-7	breast:
34	chr1:193437756..193439529-chr1:193439786..193441359,2	K562	blood:
35	chr1:193426586..193427494-chr1:193448215..193449023,2	MCF-7	breast:
36	chr1:193377465..193381414-chr1:193382139..193384801,3	K562	blood:
37	chr1:193469373..193472301-chr1:193476397..193478331,2	K562	blood:
38	chr1:193328908..193330728-chr1:193373987..193376713,2	K562	blood:
39	chr1:193358877..193360708-chr1:193363021..193364568,2	K562	blood:
40	chr1:193447947..193450632-chr1:193457523..193459176,2	K562	blood:
41	chr1:193410881..193413568-chr1:193421157..193422751,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-9	chr1:193442310-193442506	NONHSAT008570
2	lnc-CDC73-9	chr1:193515178-193515300	NONHSAT008570
3	lnc-CDC73-8	chr1:193474339-193474848	NONHSAT008571
4	lnc-CDC73-7	chr1:193430697-193434850	NONHSAT008569
5	lnc-CDC73-8	chr1:193474861-193475175	NONHSAT008571
6	lnc-CDC73-7	chr1:193426728-193427217	NONHSAT008569

No data

Extended variants
information (count: 6347 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6347 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368696264	chr1:193342437-193342438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537075977	chr1:193342488-193342489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546601498	chr1:193342511-193342512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566500074	chr1:193342559-193342560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535329783	chr1:193342576-193342577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140275640	chr1:193342623-193342624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375722617	chr1:193342665-193342666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149943537	chr1:193342680-193342681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192198362	chr1:193342760-193342761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4657857	chr1:193342771-193342772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573811823	chr1:193342867-193342868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184700269	chr1:193342880-193342881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559301601	chr1:193342898-193342899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543143383	chr1:193342932-193342933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572949053	chr1:193342934-193342935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544966464	chr1:193342984-193342985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188676498	chr1:193342987-193342988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530575753	chr1:193342989-193342990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550776149	chr1:193342996-193342997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560932492	chr1:193343057-193343058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181398893	chr1:193343087-193343088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546762327	chr1:193343100-193343101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74130974	chr1:193343103-193343104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538635296	chr1:193343136-193343137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375803446	chr1:193343185-193343186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551740560	chr1:193343229-193343230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185936289	chr1:193343286-193343287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540151671	chr1:193343356-193343357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537213223	chr1:193343371-193343372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557515967	chr1:193343382-193343383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371259167	chr1:193343448-193343449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57117843	chr1:193343504-193343505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140862526	chr1:193343533-193343534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138332312	chr1:193343564-193343565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201678648	chr1:193343567-193343568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545390946	chr1:193343588-193343589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367710421	chr1:193343654-193343655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558545615	chr1:193343658-193343659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563410383	chr1:193343669-193343670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200484941	chr1:193343707-193343708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551917702	chr1:193343708-193343709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529952658	chr1:193343780-193343781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540287126	chr1:193343803-193343804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371650124	chr1:193343833-193343834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138514865	chr1:193343899-193343900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552164219	chr1:193343925-193343926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570955913	chr1:193343970-193343971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568793893	chr1:193344076-193344077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531215085	chr1:193344078-193344079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376294121	chr1:193344113-193344114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	21510904	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:1321 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung
2	chr1:193338200-193344200	Weak transcription	Stomach Mucosa	stomach
3	chr1:193344200-193344800	Enhancers	Stomach Mucosa	stomach
4	chr1:193347000-193347200	Enhancers	Spleen	Spleen
5	chr1:193357800-193375600	Weak transcription	Fetal Lung	lung
6	chr1:193360400-193361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:193360600-193361200	Enhancers	Fetal Intestine Small	intestine
8	chr1:193362600-193363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:193363000-193363200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:193363200-193363400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:193363200-193366000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:193363600-193364400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:193364400-193364800	Enhancers	Placenta	Placenta
14	chr1:193364600-193364800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:193364600-193365400	Active TSS	K562	blood
16	chr1:193364800-193365400	Active TSS	Placenta	Placenta
17	chr1:193365400-193365600	Flanking Active TSS	K562	blood
18	chr1:193365400-193366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:193369600-193378000	Weak transcription	Aorta	Aorta
20	chr1:193370400-193370600	Enhancers	Pancreas	Pancrea
21	chr1:193370400-193377400	Weak transcription	HSMMtube	muscle
22	chr1:193370600-193377200	Weak transcription	Pancreas	Pancrea
23	chr1:193371400-193371800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:193371800-193372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:193371800-193372400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:193371800-193372600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:193371800-193373200	Enhancers	Fetal Intestine Small	intestine
28	chr1:193371800-193377400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:193372200-193372800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:193372200-193373000	Enhancers	Liver	Liver
31	chr1:193372200-193373000	Enhancers	Fetal Intestine Large	intestine
32	chr1:193372400-193373600	Enhancers	Fetal Kidney	kidney
33	chr1:193372400-193375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:193372400-193375800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:193372600-193375600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:193372800-193373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:193373000-193376200	Weak transcription	Liver	Liver
38	chr1:193373000-193377200	Weak transcription	Fetal Intestine Large	intestine
39	chr1:193373200-193373400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:193373400-193376200	Weak transcription	Primary T cells from cord blood	blood
41	chr1:193373600-193373800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:193373600-193376000	Weak transcription	Fetal Kidney	kidney
43	chr1:193373800-193381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:193374200-193374400	ZNF genes & repeats	Ovary	ovary
45	chr1:193374400-193377000	Weak transcription	Ovary	ovary
46	chr1:193375000-193376800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:193375600-193375800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:193375600-193376400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:193375600-193376400	Enhancers	HSMM	muscle
50	chr1:193375600-193376600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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