Variant report

Variant	nsv872892
Chromosome Location	chr1:194945222-195031417
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
2	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
3	chr1:194975514..194978503-chr1:194979065..194981637,2	MCF-7	breast:
4	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
5	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
6	chr1:194975514..194978503-chr1:194979065..194981637,2	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	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
11	chr1:195022148..195022648-chr5:180672971..180673497,2	HCT-116	colon:

No data

Extended variants
information (count: 253 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369137537	chr1:194951418-194951419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188503220	chr1:194951422-194951423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192934778	chr1:194951430-194951431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567143789	chr1:194951448-194951449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184804681	chr1:194951458-194951459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549446840	chr1:194951464-194951465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567838557	chr1:194951511-194951512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143573358	chr1:194951519-194951520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562685284	chr1:194976822-194976823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180836408	chr1:194976872-194976873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551587009	chr1:194976874-194976875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539945609	chr1:194976878-194976879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185907516	chr1:194976888-194976889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534251106	chr1:194976900-194976901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549218680	chr1:194976921-194976922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567616185	chr1:194976922-194976923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78290449	chr1:194976928-194976929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189219611	chr1:194976943-194976944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1411814	chr1:194976954-194976955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138374147	chr1:194976999-194977000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73066580	chr1:194977066-194977067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114416474	chr1:194977128-194977129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80025346	chr1:194977131-194977132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531318745	chr1:194977152-194977153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540283571	chr1:194977164-194977165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143283715	chr1:194977169-194977170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548090018	chr1:194977170-194977171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373871873	chr1:194977178-194977179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570399172	chr1:194977269-194977270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573553685	chr1:194977272-194977273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543841969	chr1:194977277-194977278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181778278	chr1:194977286-194977287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562502242	chr1:194977314-194977315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533255550	chr1:194977373-194977374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551703724	chr1:194977389-194977390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6660921	chr1:194977390-194977391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573539488	chr1:194977444-194977445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527508333	chr1:194977500-194977501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186364510	chr1:194977501-194977502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76803802	chr1:194977527-194977528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190415464	chr1:194977551-194977552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549753078	chr1:194977579-194977580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571351679	chr1:194977600-194977601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183004141	chr1:194977617-194977618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554055535	chr1:194977648-194977649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148307145	chr1:194977650-194977651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116601269	chr1:194977679-194977680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7538496	chr1:194977724-194977725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562742682	chr1:194977764-194977765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12059507	chr1:194977797-194977798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Oral cancer	21386901	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194951400-194951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:194976800-194977800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:194976800-194977800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:194977800-194980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:194977800-194980200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:194980000-194980800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:194980200-194980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:194980200-194980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:194988600-194989000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:194988600-194989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:194988800-194989200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:194999600-195000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:195005000-195005400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195022600-195023000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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