Variant report

Variant	nsv548697
Chromosome Location	chr1:194771333-194832490
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
2	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
3	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
4	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
5	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
6	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
7	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
8	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
9	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
10	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
11	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
12	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
13	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
14	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
15	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
16	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
17	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
18	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
19	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
20	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
21	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
22	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
23	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
24	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
25	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
26	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
27	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
28	chr1:194715893..194719551-chr1:194826480..194829868,3	K562	blood:
29	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
30	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
31	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
32	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
33	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
34	chr1:194761910..194763801-chr1:194771015..194773565,2	K562	blood:
35	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
36	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
37	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
38	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
39	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
40	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
41	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
42	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
43	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
44	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
45	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
46	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
47	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
48	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
49	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
50	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions

Extended variants
information (count: 2395 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2395 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16837454	chr1:194771333-194771334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143927399	chr1:194771340-194771341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530292699	chr1:194771349-194771350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147267985	chr1:194771372-194771373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570356412	chr1:194771389-194771390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531384268	chr1:194771390-194771391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564754910	chr1:194771405-194771406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182005292	chr1:194771438-194771439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571183739	chr1:194771442-194771443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186084483	chr1:194771445-194771446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570570392	chr1:194771474-194771475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547442858	chr1:194771495-194771496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565568035	chr1:194771543-194771544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536022807	chr1:194771664-194771665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112013293	chr1:194771686-194771687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375585687	chr1:194771718-194771719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200136095	chr1:194771731-194771732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575933452	chr1:194771755-194771756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540967445	chr1:194771831-194771832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138743887	chr1:194771846-194771847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537309876	chr1:194771851-194771852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562252287	chr1:194771858-194771859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17645982	chr1:194771887-194771888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532013136	chr1:194771908-194771909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577138912	chr1:194771985-194771986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73056459	chr1:194771986-194771987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114820124	chr1:194772018-194772019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575123433	chr1:194772049-194772050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542442216	chr1:194772051-194772052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532902902	chr1:194772060-194772061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562994248	chr1:194772067-194772068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563828456	chr1:194772137-194772138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12137548	chr1:194772255-194772256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149349472	chr1:194772265-194772266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35702164	chr1:194772309-194772310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192048405	chr1:194772316-194772317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12568031	chr1:194772319-194772320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74440451	chr1:194772324-194772325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10754115	chr1:194772457-194772458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs547209666	chr1:194772484-194772485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143903121	chr1:194772510-194772511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144144814	chr1:194772553-194772554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535897204	chr1:194772580-194772581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10754116	chr1:194772616-194772617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569477051	chr1:194772650-194772651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148679941	chr1:194772680-194772681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558791710	chr1:194772686-194772687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577200448	chr1:194772707-194772708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375950031	chr1:194772719-194772720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143393309	chr1:194772763-194772764	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: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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