Variant report

Variant	nsv467183
Chromosome Location	chr1:195166911-195267072
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195180067..195181644-chr1:195189750..195192618,2	K562	blood:
2	chr1:195236405..195237102-chr2:169335217..169335963,2	MCF-7	breast:
3	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
4	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
5	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
6	chr1:195180067..195181644-chr1:195189750..195192618,2	K562	blood:
7	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
8	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:

No data

Extended variants
information (count: 403 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12755016	chr1:195166911-195166912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140722820	chr1:195166935-195166936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577973744	chr1:195166936-195166937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545337974	chr1:195166958-195166959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560434920	chr1:195166964-195166965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373390677	chr1:195166984-195166985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542847863	chr1:195167064-195167065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77496908	chr1:195167082-195167083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529023543	chr1:195167083-195167084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73056213	chr1:195167091-195167092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562302428	chr1:195167134-195167135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532955297	chr1:195167164-195167165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58307116	chr1:195167178-195167179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566390120	chr1:195167184-195167185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376570804	chr1:195167238-195167239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369660915	chr1:195167311-195167312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs650675	chr1:195167314-195167315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12092618	chr1:195167354-195167355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573705871	chr1:195167359-195167360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12035358	chr1:195167372-195167373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12092629	chr1:195167403-195167404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12092664	chr1:195167419-195167420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12092665	chr1:195167421-195167422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12092667	chr1:195167449-195167450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144568779	chr1:195167511-195167512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12092714	chr1:195167550-195167551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75020371	chr1:195167555-195167556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112317941	chr1:195167573-195167574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573478394	chr1:195167578-195167579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137915096	chr1:195169611-195169612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572044844	chr1:195169638-195169639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529499329	chr1:195169642-195169643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35532093	chr1:195169659-195169660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115607878	chr1:195169664-195169665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561015073	chr1:195169684-195169685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566153365	chr1:195169739-195169740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140804713	chr1:195169812-195169813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543355808	chr1:195169838-195169839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565048242	chr1:195169841-195169842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555225145	chr1:195169847-195169848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567263031	chr1:195169853-195169854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547456179	chr1:195169884-195169885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190863153	chr1:195169922-195169923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530022586	chr1:195169962-195169963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527279631	chr1:195171204-195171205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536674400	chr1:195171213-195171214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113057100	chr1:195171296-195171297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548612206	chr1:195171311-195171312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547887987	chr1:195171314-195171315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139038935	chr1:195171332-195171333	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Schizophrenia	21346763	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Maculopathy	22022419	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195165000-195167000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:195165400-195167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:195166400-195167400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:195166600-195167000	Weak transcription	GM12878-XiMat	blood
5	chr1:195166800-195167000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:195166800-195167200	Enhancers	Hela-S3	cervix
7	chr1:195166800-195167400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:195166800-195167400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:195166800-195167400	Enhancers	Placenta	Placenta
10	chr1:195166800-195167600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:195167000-195167400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:195167000-195167600	Enhancers	Primary T cells from cord blood	blood
13	chr1:195169600-195169800	Enhancers	Fetal Lung	lung
14	chr1:195169800-195170000	Enhancers	Ovary	ovary
15	chr1:195171200-195172200	Enhancers	Fetal Heart	heart
16	chr1:195171400-195172000	Enhancers	Fetal Stomach	stomach
17	chr1:195171600-195172000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:195171600-195172000	Enhancers	Fetal Lung	lung
19	chr1:195171600-195172000	Enhancers	Left Ventricle	heart
20	chr1:195171600-195172000	Enhancers	Ovary	ovary
21	chr1:195182600-195186200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:195187400-195188200	ZNF genes & repeats	Pancreas	Pancrea
23	chr1:195187600-195188000	ZNF genes & repeats	Gastric	stomach
24	chr1:195187800-195188200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:195187800-195188200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:195205600-195207200	Enhancers	Fetal Heart	heart
27	chr1:195206400-195206800	Enhancers	Adipose Nuclei	Adipose
28	chr1:195206400-195206800	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:195206400-195207800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:195206600-195207800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:195207400-195207600	ZNF genes & repeats	Lung	lung
32	chr1:195207400-195207800	ZNF genes & repeats	Gastric	stomach
33	chr1:195210400-195211600	Active TSS	Fetal Muscle Leg	muscle
34	chr1:195258600-195259000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:195258800-195259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:195259000-195259400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:195259000-195259400	Enhancers	HUES64 Cell Line	embryonic stem cell

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