Variant report

Variant	nsv872943
Chromosome Location	chr1:195811203-195849028
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
2	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
3	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
4	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
5	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
6	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
7	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
8	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
9	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
10	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
11	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:
12	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
13	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
14	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
15	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
16	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
17	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
18	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
19	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
20	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
21	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
22	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
23	chr1:195799469..195802438-chr1:195824190..195826627,2	K562	blood:
24	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:

No data

Extended variants
information (count: 1070 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150492894	chr1:195812410-195812411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61820597	chr1:195812446-195812447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148482762	chr1:195812447-195812448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373838661	chr1:195812448-195812449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563887624	chr1:195812451-195812452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566580401	chr1:195812504-195812505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183315895	chr1:195812509-195812510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567797303	chr1:195812547-195812548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4443868	chr1:195812550-195812551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188485572	chr1:195812569-195812570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569436822	chr1:195812575-195812576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555427042	chr1:195812623-195812624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539704648	chr1:195812664-195812665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573977345	chr1:195812684-195812685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557125989	chr1:195812690-195812691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541927625	chr1:195812734-195812735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558441893	chr1:195812735-195812736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573246875	chr1:195812795-195812796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10921948	chr1:195812820-195812821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555832761	chr1:195812824-195812825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138467411	chr1:195812834-195812835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377037566	chr1:195812841-195812842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10921949	chr1:195812864-195812865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143008141	chr1:195812931-195812932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575408006	chr1:195812933-195812934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113034742	chr1:195812952-195812953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193132900	chr1:195812972-195812973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10436908	chr1:195813009-195813010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184932374	chr1:195813024-195813025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112824092	chr1:195813051-195813052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375144910	chr1:195813059-195813060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376107741	chr1:195813077-195813078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539831428	chr1:195813136-195813137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10801461	chr1:195813147-195813148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10921950	chr1:195813179-195813180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188092216	chr1:195813213-195813214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569318091	chr1:195813262-195813263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61820598	chr1:195813296-195813297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533595382	chr1:195813402-195813403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551715889	chr1:195813414-195813415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77554793	chr1:195813419-195813420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567157085	chr1:195813423-195813424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57442584	chr1:195813428-195813429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375896854	chr1:195813431-195813432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115798336	chr1:195813432-195813433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555795937	chr1:195813488-195813489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191282728	chr1:195813501-195813502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149378028	chr1:195813509-195813510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556635948	chr1:195813519-195813520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575320650	chr1:195813526-195813527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195812400-195814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:195813000-195813200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:195813200-195814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:195814000-195814200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:195814000-195814800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:195814000-195815600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:195814200-195814400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
8	chr1:195814200-195815400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:195814400-195817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:195814600-195814800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:195814600-195814800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:195814800-195815000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:195814800-195815200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:195814800-195815400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:195814800-195815800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:195814800-195818400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:195815000-195815200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:195815000-195817800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:195815200-195815400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:195815200-195817600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:195815400-195815600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:195815400-195816400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:195815400-195817600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:195815600-195815800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:195815600-195816400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:195815800-195816200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:195815800-195817600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:195815800-195818000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:195816000-195817400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:195816200-195817800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:195816400-195816600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:195816400-195816800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:195816600-195816800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:195816800-195817000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:195816800-195817400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:195816800-195817600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:195817000-195817400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:195817000-195817400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:195817000-195817800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:195817000-195817800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:195817000-195818000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:195817000-195818200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:195817400-195817600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:195817400-195817800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:195817400-195818400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:195817400-195821200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:195817600-195818000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:195817600-195818200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:195817600-195818200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:195817600-195818200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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