Variant report

Variant	nsv519014
Chromosome Location	chr1:194767985-194832490
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:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
2	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
3	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
4	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
5	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
6	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
7	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
8	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
9	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
10	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
11	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
12	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
13	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
14	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
15	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
16	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
17	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
18	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
19	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
20	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
21	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
22	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
23	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
24	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
25	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
26	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
27	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
28	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
29	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
30	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
31	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
32	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
33	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
34	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
35	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
36	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
37	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
38	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
39	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
40	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
41	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
42	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
43	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
44	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
45	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
46	chr1:194740229..194742934-chr1:194768540..194770092,2	K562	blood:
47	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
48	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
49	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
50	chr1:194761910..194763801-chr1:194771015..194773565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions

Extended variants
information (count: 2517 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2517 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12039998	chr1:194767985-194767986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188422877	chr1:194768002-194768003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374736450	chr1:194768099-194768100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572598659	chr1:194768118-194768119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555547924	chr1:194768124-194768125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181498101	chr1:194768141-194768142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140274067	chr1:194768176-194768177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550876626	chr1:194768234-194768235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374771531	chr1:194768338-194768339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575576008	chr1:194768356-194768357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542994267	chr1:194768361-194768362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370116085	chr1:194768397-194768398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546446816	chr1:194768406-194768407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144030685	chr1:194768420-194768421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1929225	chr1:194768433-194768434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561613041	chr1:194768506-194768507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146433920	chr1:194768517-194768518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538916225	chr1:194768518-194768519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557743641	chr1:194768540-194768541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199812379	chr1:194768565-194768566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373328772	chr1:194768651-194768652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572716338	chr1:194768669-194768670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145401511	chr1:194768692-194768693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528645595	chr1:194768724-194768725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540350944	chr1:194768753-194768754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184324868	chr1:194768782-194768783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561751894	chr1:194768784-194768785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573923885	chr1:194768786-194768787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149031020	chr1:194768791-194768792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189611392	chr1:194768805-194768806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533269174	chr1:194768819-194768820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377367827	chr1:194768820-194768821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115926996	chr1:194768877-194768878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28578943	chr1:194768898-194768899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143419242	chr1:194768915-194768916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148359357	chr1:194768930-194768931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180885563	chr1:194768994-194768995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76316297	chr1:194769003-194769004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186289854	chr1:194769048-194769049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191114819	chr1:194769050-194769051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6428265	chr1:194769106-194769107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181492547	chr1:194769152-194769153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550729902	chr1:194769304-194769305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549964242	chr1:194769332-194769333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568814003	chr1:194769364-194769365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571465762	chr1:194769389-194769390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186225583	chr1:194769406-194769407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539084016	chr1:194769411-194769412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11370634	chr1:194769435-194769436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7531595	chr1:194769442-194769443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
4	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
5	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
8	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
10	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
11	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
14	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
15	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:194807600-194807800	Strong transcription	K562	blood
18	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
19	chr1:194808000-194825600	Weak transcription	K562	blood
20	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
21	chr1:194825600-194831000	Active TSS	K562	blood
22	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
23	chr1:194826000-194829200	Weak transcription	Right Atrium	heart

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