Variant report

Variant	nsv548694
Chromosome Location	chr1:194560463-194646744
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
2	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
3	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
4	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
5	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
6	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
7	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
8	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
9	chr1:194583954..194584474-chr11:21332888..21333408,2	MCF-7	breast:
10	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
11	chr1:194624819..194626729-chr1:194711630..194714055,2	K562	blood:
12	chr1:194583454..194584474-chr7:89057256..89058256,3	MCF-7	breast:
13	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
14	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
15	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
16	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
17	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
18	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
19	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
20	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
21	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
22	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
23	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
24	chr1:194583954..194584474-chr4:116457976..116458496,2	MCF-7	breast:
25	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
26	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
27	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
28	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
29	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
30	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
31	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
32	chr1:194583954..194584474-chr4:146024840..146025360,2	MCF-7	breast:
33	chr1:194583474..194584454-chr2:31059867..31060367,2	MCF-7	breast:
34	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
35	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
36	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
37	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
38	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
39	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:

No data

Extended variants
information (count: 667 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567659502	chr1:194567403-194567404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549332350	chr1:194567411-194567412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556472432	chr1:194567419-194567420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138117212	chr1:194567428-194567429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185759996	chr1:194567432-194567433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575144670	chr1:194567462-194567463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545602570	chr1:194567480-194567481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557864359	chr1:194567507-194567508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572960459	chr1:194567524-194567525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540476516	chr1:194567557-194567558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79246495	chr1:194567563-194567564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76907902	chr1:194569450-194569451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553679707	chr1:194569453-194569454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571994398	chr1:194569501-194569502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35966767	chr1:194569551-194569552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542655664	chr1:194569560-194569561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554665229	chr1:194569573-194569574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576487243	chr1:194569617-194569618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181967043	chr1:194569620-194569621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542643050	chr1:194569625-194569626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187610855	chr1:194569648-194569649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34991338	chr1:194569704-194569705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190401213	chr1:194569719-194569720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541614577	chr1:194569727-194569728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183038386	chr1:194569762-194569763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562813243	chr1:194569765-194569766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12035833	chr1:194569772-194569773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186967447	chr1:194569774-194569775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3001221	chr1:194569816-194569817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376324318	chr1:194569845-194569846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557457701	chr1:194569872-194569873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531444948	chr1:194569885-194569886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74467498	chr1:194569898-194569899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74131783	chr1:194569899-194569900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369403748	chr1:194569940-194569941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143676065	chr1:194569970-194569971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567315462	chr1:194575230-194575231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6683562	chr1:194575239-194575240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188158217	chr1:194575263-194575264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181778333	chr1:194575313-194575314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577500889	chr1:194575395-194575396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545040835	chr1:194575406-194575407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553703995	chr1:194575411-194575412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76822031	chr1:194575415-194575416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140950802	chr1:194575430-194575431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186414237	chr1:194575431-194575432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551671349	chr1:194575442-194575443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146354392	chr1:194575454-194575455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11383440	chr1:194575513-194575514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565616117	chr1:194575524-194575525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194567400-194567600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:194569400-194570000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:194575200-194576400	Enhancers	Dnd41	blood
4	chr1:194579600-194580000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:194585000-194585200	Enhancers	Dnd41	blood
6	chr1:194585200-194585600	Flanking Active TSS	Dnd41	blood
7	chr1:194585600-194586400	Active TSS	Dnd41	blood
8	chr1:194594200-194594400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:194626200-194626400	Active TSS	K562	blood
10	chr1:194626400-194626800	Flanking Active TSS	K562	blood
11	chr1:194626600-194627200	Active TSS	Placenta	Placenta
12	chr1:194626600-194627400	Enhancers	HepG2	liver
13	chr1:194626800-194627800	Active TSS	K562	blood
14	chr1:194627000-194627600	Enhancers	HMEC	breast
15	chr1:194627800-194628200	Enhancers	K562	blood
16	chr1:194637200-194644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:194643000-194643400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:194644800-194645000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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