Variant report

Variant	nsv947150
Chromosome Location	chr1:195880810-195907310
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
2	chr1:195873239..195874768-chr1:195881768..195884763,2	MCF-7	breast:
3	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
4	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
5	chr1:195901511..195904134-chr1:195919698..195921309,2	K562	blood:
6	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
7	chr1:195890973..195893135-chr1:195899098..195901610,2	K562	blood:
8	chr1:195901067..195904510-chr1:195904867..195907944,3	K562	blood:
9	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:
10	chr1:195900460..195904053-chr1:195910275..195914272,3	K562	blood:
11	chr1:195902143..195904791-chr1:195905096..195906863,2	K562	blood:
12	chr1:195891817..195893332-chr1:196109903..196112041,2	K562	blood:

No data

Extended variants
information (count: 451 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527332823	chr1:195880820-195880821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3008551	chr1:195880830-195880831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376990066	chr1:195880853-195880854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370113754	chr1:195880900-195880901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551868992	chr1:195880938-195880939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531329523	chr1:195880986-195880987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76463520	chr1:195881037-195881038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147776388	chr1:195881077-195881078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564200948	chr1:195881108-195881109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192557972	chr1:195881163-195881164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375571017	chr1:195881178-195881179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548159182	chr1:195881186-195881187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140079820	chr1:195881219-195881220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536676200	chr1:195881232-195881233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555017759	chr1:195881234-195881235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528137146	chr1:195881250-195881251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576452274	chr1:195881277-195881278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114475748	chr1:195881322-195881323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115511314	chr1:195881346-195881347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150490997	chr1:195881397-195881398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3008552	chr1:195881459-195881460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114443662	chr1:195881470-195881471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10801492	chr1:195881511-195881512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185578964	chr1:195881524-195881525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563513285	chr1:195881542-195881543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77018135	chr1:195881583-195881584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138321601	chr1:195881587-195881588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368125598	chr1:195881634-195881635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34058380	chr1:195881671-195881672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370411351	chr1:195881673-195881674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566823172	chr1:195881833-195881834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189226700	chr1:195881834-195881835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565475908	chr1:195881835-195881836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115027336	chr1:195881866-195881867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548092712	chr1:195881899-195881900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80319170	chr1:195881917-195881918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536966698	chr1:195881944-195881945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548515526	chr1:195881957-195881958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569959492	chr1:195881958-195881959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537541508	chr1:195881965-195881966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181596055	chr1:195881976-195881977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577744352	chr1:195881981-195881982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538412626	chr1:195882002-195882003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78883100	chr1:195882019-195882020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571963915	chr1:195882051-195882052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186005864	chr1:195882052-195882053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34940267	chr1:195882070-195882071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3008553	chr1:195882071-195882072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188917093	chr1:195882079-195882080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543485644	chr1:195882090-195882091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:195885000-195885200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr1:195903800-195904200	Enhancers	Fetal Lung	lung
5	chr1:195904200-195904600	Active TSS	Fetal Lung	lung
6	chr1:195904400-195904800	Enhancers	Fetal Brain Female	brain

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