Variant report

Variant	nsv548700
Chromosome Location	chr1:194783067-194849689
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:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
2	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
3	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
4	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
5	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
6	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
7	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
8	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
9	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
10	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
11	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
12	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
13	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
14	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
15	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
16	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
17	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
18	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
19	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
20	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
21	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
22	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
23	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
24	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
25	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
26	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
27	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
28	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
29	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
30	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
31	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
32	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
33	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
34	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
35	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
36	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
37	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
38	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
39	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
40	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
41	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
42	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
43	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
44	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
45	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
46	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
47	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
48	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
49	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
50	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions

Extended variants
information (count: 2028 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2028 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7550967	chr1:194783067-194783068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146563744	chr1:194783173-194783174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545136299	chr1:194783198-194783199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552529539	chr1:194783219-194783220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61815518	chr1:194783240-194783241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560209031	chr1:194783248-194783249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368509175	chr1:194783249-194783250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12726701	chr1:194783259-194783260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374363688	chr1:194783264-194783265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12751772	chr1:194783265-194783266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66680646	chr1:194783269-194783270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12751775	chr1:194783270-194783271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113634588	chr1:194783280-194783281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527734702	chr1:194783306-194783307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184457227	chr1:194783308-194783309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112596660	chr1:194783320-194783321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549322900	chr1:194783351-194783352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561501057	chr1:194783354-194783355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531936911	chr1:194783418-194783419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2131390	chr1:194783432-194783433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141230110	chr1:194783468-194783469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568906049	chr1:194783470-194783471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539433141	chr1:194783472-194783473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551550627	chr1:194783493-194783494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559885993	chr1:194783510-194783511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144953948	chr1:194783516-194783517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555292247	chr1:194783525-194783526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369024343	chr1:194783537-194783538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559573221	chr1:194783542-194783543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529945696	chr1:194783560-194783561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189334176	chr1:194783561-194783562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74576681	chr1:194783566-194783567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138148588	chr1:194783576-194783577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1543664	chr1:194783613-194783614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560076705	chr1:194783615-194783616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180940702	chr1:194783641-194783642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543079745	chr1:194783655-194783656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561351680	chr1:194783663-194783664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531920848	chr1:194783688-194783689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550249594	chr1:194783727-194783728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531557455	chr1:194783780-194783781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550143867	chr1:194783795-194783796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371486097	chr1:194783804-194783805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12058550	chr1:194783835-194783836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149119946	chr1:194783875-194783876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375310213	chr1:194783961-194783962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143176491	chr1:194784004-194784005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116713715	chr1:194784005-194784006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148256593	chr1:194784070-194784071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565907169	chr1:194784089-194784090	Weak transcription	n/a	n/a	Overlapped CNVs	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194763000-194807600	Weak transcription	K562	blood
2	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
5	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
7	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
8	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
11	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
12	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:194807600-194807800	Strong transcription	K562	blood
15	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
16	chr1:194808000-194825600	Weak transcription	K562	blood
17	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
18	chr1:194825600-194831000	Active TSS	K562	blood
19	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
20	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
21	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:194842200-194842800	Enhancers	K562	blood

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