Variant report

Variant	esv3391029
Chromosome Location	chr1:193882344-193918949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193900151..193902941-chr1:193904625..193907312,2	K562	blood:
2	chr1:193900151..193902941-chr1:193904625..193907312,2	K562	blood:
3	chr1:193426910..193427495-chr1:193888652..193889585,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-11	chr1:193894657-193894745	NONHSAT008577
2	lnc-CDC73-11	chr1:193904029-193904142	NONHSAT008577

Extended variants
information (count: 579 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553469832	chr1:193885203-193885204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12726896	chr1:193885235-193885236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538966482	chr1:193885259-193885260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558777050	chr1:193885266-193885267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75381603	chr1:193885288-193885289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80340977	chr1:193885299-193885300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561478822	chr1:193885327-193885328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149321430	chr1:193885418-193885419	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561763251	chr1:193885447-193885448	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34628459	chr1:193885471-193885472	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs55814048	chr1:193885484-193885485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs36015393	chr1:193885487-193885488	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34779066	chr1:193885506-193885507	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552510622	chr1:193885508-193885509	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550788879	chr1:193885514-193885515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191195374	chr1:193885525-193885526	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531585251	chr1:193885556-193885557	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs16835933	chr1:193885584-193885585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568179644	chr1:193885629-193885630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533663403	chr1:193885644-193885645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577585148	chr1:193885706-193885707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570113710	chr1:193885732-193885733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182320791	chr1:193885745-193885746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541340203	chr1:193885748-193885749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558862265	chr1:193885828-193885829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575529467	chr1:193885842-193885843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116583207	chr1:193885879-193885880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554880183	chr1:193885927-193885928	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574948249	chr1:193885930-193885931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540374891	chr1:193886001-193886002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560532561	chr1:193886020-193886021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577353667	chr1:193886061-193886062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546218991	chr1:193886078-193886079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562801207	chr1:193886079-193886080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531494967	chr1:193886138-193886139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546359649	chr1:193886143-193886144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1999102	chr1:193886154-193886155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561752626	chr1:193886189-193886190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527432983	chr1:193886342-193886343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547098002	chr1:193886355-193886356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570202279	chr1:193886370-193886371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532810429	chr1:193886413-193886414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549344658	chr1:193886467-193886468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569276697	chr1:193886479-193886480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139281356	chr1:193886516-193886517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375620083	chr1:193886534-193886535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555199199	chr1:193886536-193886537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568570897	chr1:193886596-193886597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548260423	chr1:193888854-193888855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191682734	chr1:193888881-193888882	Enhancers	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193885200-193885400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr1:193885200-193885600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:193885200-193886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:193885200-193886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:193885200-193886400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:193885400-193885600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:193885400-193886000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:193885400-193886200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:193885400-193886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:193885400-193886200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:193885400-193886400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:193885600-193885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:193885800-193886000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:193886000-193886600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:193888800-193889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:193888800-193889800	Enhancers	NH-A	brain
17	chr1:193889000-193889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:193889000-193889600	Enhancers	Fetal Heart	heart
19	chr1:193895400-193895600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr1:193895400-193897400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr1:193896000-193897200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:193896200-193896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:193896200-193896800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:193896800-193898400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr1:193897200-193897400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr1:193897200-193899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:193897400-193898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:193897600-193898400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr1:193898200-193898400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:193898200-193899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:193898200-193900200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:193898200-193900200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:193898200-193900600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:193898400-193898600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:193898400-193899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:193898400-193900200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:193898400-193900200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:193898400-193900200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:193898600-193900200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:193899400-193900200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:193899600-193899800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:193900200-193906400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:193901600-193903200	Enhancers	Liver	Liver
44	chr1:193906000-193906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:193906200-193906800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:193906400-193906600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:193913000-193914200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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