Variant report

Variant	nsv467149
Chromosome Location	chr1:194919249-195019104
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
2	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:
3	chr1:194975514..194978503-chr1:194979065..194981637,2	MCF-7	breast:
4	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
5	chr1:194975514..194978503-chr1:194979065..194981637,2	MCF-7	breast:
6	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
7	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
8	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:
9	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
10	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
11	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
12	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
13	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:

No data

Extended variants
information (count: 341 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12562570	chr1:194921202-194921203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532400499	chr1:194921207-194921208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182398391	chr1:194921267-194921268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566915706	chr1:194921272-194921273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527871812	chr1:194921301-194921302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61817161	chr1:194921318-194921319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549625658	chr1:194921334-194921335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371365741	chr1:194921393-194921394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568153619	chr1:194921397-194921398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535554023	chr1:194921404-194921405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556638900	chr1:194921466-194921467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568858810	chr1:194921467-194921468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573766931	chr1:194921483-194921484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188711702	chr1:194921519-194921520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573086020	chr1:194921522-194921523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192501685	chr1:194921534-194921535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374683313	chr1:194921537-194921538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540037248	chr1:194921585-194921586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555180221	chr1:194921607-194921608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367635944	chr1:194921662-194921663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2221371	chr1:194921683-194921684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116440777	chr1:194921684-194921685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374727838	chr1:194921757-194921758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184006272	chr1:194934801-194934802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1328319	chr1:194934811-194934812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141567678	chr1:194934864-194934865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567797642	chr1:194934901-194934902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74218376	chr1:194934926-194934927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138411570	chr1:194934954-194934955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115557804	chr1:194934955-194934956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559897242	chr1:194934970-194934971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564404832	chr1:194934992-194934993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146080107	chr1:194935035-194935036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5779765	chr1:194935050-194935051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527545406	chr1:194935071-194935072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572525672	chr1:194935122-194935123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140033498	chr1:194935161-194935162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561618665	chr1:194935181-194935182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573686497	chr1:194935185-194935186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543756886	chr1:194935205-194935206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs339585	chr1:194935235-194935236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533022353	chr1:194935295-194935296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551248329	chr1:194935299-194935300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567614589	chr1:194935312-194935313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560426630	chr1:194935317-194935318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78051859	chr1:194935349-194935350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549203064	chr1:194935389-194935390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149343790	chr1:194935403-194935404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538346481	chr1:194935450-194935451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184630	chr1:194935461-194935462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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	21364760	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Maculopathy	22022419	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194921200-194921800	Enhancers	Brain Germinal Matrix	brain
2	chr1:194934800-194936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:194937400-194937800	Enhancers	Brain Germinal Matrix	brain
4	chr1:194951400-194951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:194976800-194977800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:194976800-194977800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:194977800-194980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:194977800-194980200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:194980000-194980800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:194980200-194980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:194980200-194980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:194988600-194989000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:194988600-194989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:194988800-194989200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:194999600-195000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:195005000-195005400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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