Variant report

Variant	nsv872905
Chromosome Location	chr1:195185423-195273096
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195236405..195237102-chr2:169335217..169335963,2	MCF-7	breast:
2	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
3	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
4	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
5	chr1:195233955..195235990-chr1:195238834..195240836,2	K562	blood:
6	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
7	chr1:195211970..195213512-chr1:195217966..195220235,2	K562	blood:
8	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
9	chr1:195180067..195181644-chr1:195189750..195192618,2	K562	blood:

No data

Extended variants
information (count: 222 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10921817	chr1:195185423-195185424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574937037	chr1:195185431-195185432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143929643	chr1:195185477-195185478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557428541	chr1:195185483-195185484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188987387	chr1:195185489-195185490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546203895	chr1:195185503-195185504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564769415	chr1:195185506-195185507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140308647	chr1:195185516-195185517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144155246	chr1:195185529-195185530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180889977	chr1:195185543-195185544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187387296	chr1:195185547-195185548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192232413	chr1:195185576-195185577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74686415	chr1:195185611-195185612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530397322	chr1:195185626-195185627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552203714	chr1:195185651-195185652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183560240	chr1:195185675-195185676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528276618	chr1:195185714-195185715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546818026	chr1:195185715-195185716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568249363	chr1:195185723-195185724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535984893	chr1:195185746-195185747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114464493	chr1:195185857-195185858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569292654	chr1:195185955-195185956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145594415	chr1:195185983-195185984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558173204	chr1:195186006-195186007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573528661	chr1:195186038-195186039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151084577	chr1:195186043-195186044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141029913	chr1:195186060-195186061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6671108	chr1:195186069-195186070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185994024	chr1:195186088-195186089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150221202	chr1:195186097-195186098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530432801	chr1:195186123-195186124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545736462	chr1:195186158-195186159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563921588	chr1:195186173-195186174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61815652	chr1:195186181-195186182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372430921	chr1:195186182-195186183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190315671	chr1:195186189-195186190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540446655	chr1:195187403-195187404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561907836	chr1:195187423-195187424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561666611	chr1:195187455-195187456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112132530	chr1:195187488-195187489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144585639	chr1:195187500-195187501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562731201	chr1:195187599-195187600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs10921819	chr1:195187600-195187601	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551868979	chr1:195187623-195187624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377309160	chr1:195187660-195187661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529587410	chr1:195187763-195187764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs527681047	chr1:195187764-195187765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549011797	chr1:195187769-195187770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557211130	chr1:195187799-195187800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567310208	chr1:195187800-195187801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Maculopathy	21850184	CNVD
Breast cancer	22522925	CNVD
Maculopathy	22022419	CNVD
Non-syndromic sensorineural hearing loss	18451855	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195182600-195186200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:195187400-195188200	ZNF genes & repeats	Pancreas	Pancrea
3	chr1:195187600-195188000	ZNF genes & repeats	Gastric	stomach
4	chr1:195187800-195188200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:195187800-195188200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:195205600-195207200	Enhancers	Fetal Heart	heart
7	chr1:195206400-195206800	Enhancers	Adipose Nuclei	Adipose
8	chr1:195206400-195206800	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:195206400-195207800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:195206600-195207800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:195207400-195207600	ZNF genes & repeats	Lung	lung
12	chr1:195207400-195207800	ZNF genes & repeats	Gastric	stomach
13	chr1:195210400-195211600	Active TSS	Fetal Muscle Leg	muscle
14	chr1:195258600-195259000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:195258800-195259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:195259000-195259400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:195259000-195259400	Enhancers	HUES64 Cell Line	embryonic stem cell

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