Variant report

Variant	esv2763076
Chromosome Location	chr1:71302563-71314457
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:2)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71312320..71315164-chr1:71322380..71324396,3	K562	blood:
2	chr1:71313216..71315164-chr1:71322380..71324396,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-2	chr1:71304646-71304747	XLOC_000247
2	lnc-PTGER3-5	chr1:71304595-71304798	expReg_chr1_9994_-
3	lnc-PTGER3-4	chr1:71305532-71305946	expReg_chr1_9998_-
4	lnc-CTH-2	chr1:71304482-71304557	NONHSAT003869
5	lnc-PTGER3-6	chr1:71303599-71303905	expReg_chr1_9991_-
6	lnc-CTH-2	chr1:71303920-71304557	XLOC_000247
7	lnc-CTH-2	chr1:71304646-71304750	NONHSAT003869

No data

Variant related genes	Relation type
SETD8	miRNA target sites

Extended variants
information (count: 231 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529661964	chr1:71303602-71303603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs7515193	chr1:71303612-71303613	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559551863	chr1:71303625-71303626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs189297302	chr1:71303653-71303654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571603932	chr1:71303659-71303660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs111886031	chr1:71303676-71303677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs538904196	chr1:71303684-71303685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs180884795	chr1:71303693-71303694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs12026456	chr1:71303704-71303705	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533541646	chr1:71303707-71303708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565662750	chr1:71303736-71303737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs553395163	chr1:71303765-71303766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527805117	chr1:71303767-71303768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567211844	chr1:71303884-71303885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576177682	chr1:71303928-71303929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1359833	chr1:71304032-71304033	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189736296	chr1:71304034-71304035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557955496	chr1:71304057-71304058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs374240476	chr1:71304082-71304083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540629076	chr1:71304083-71304084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs577621764	chr1:71304086-71304087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs11209704	chr1:71304102-71304103	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547548008	chr1:71304120-71304121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574344155	chr1:71304145-71304146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs538082248	chr1:71304230-71304231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs75798649	chr1:71304260-71304261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563046114	chr1:71304265-71304266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181225442	chr1:71304315-71304316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs551987791	chr1:71304367-71304368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564809485	chr1:71304427-71304428	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs527418968	chr1:71304434-71304435	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs556315836	chr1:71304450-71304451	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186249511	chr1:71304480-71304481	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs566923514	chr1:71304489-71304490	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536112047	chr1:71304507-71304508	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs549679416	chr1:71304536-71304537	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs367564705	chr1:71304564-71304565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577963850	chr1:71304601-71304602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569967251	chr1:71304642-71304643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs190564076	chr1:71304695-71304696	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs79657441	chr1:71304728-71304729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs578031067	chr1:71304750-71304751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs534289949	chr1:71304764-71304765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs182743077	chr1:71304775-71304776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554166755	chr1:71304777-71304778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs371836336	chr1:71304798-71304799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs186272047	chr1:71304813-71304814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373446891	chr1:71304849-71304850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563016191	chr1:71304891-71304892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190881787	chr1:71304929-71304930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71304400-71304600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:71304800-71305000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:71304800-71305800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71305800-71308400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71305800-71309000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71306200-71307200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:71306400-71308400	Enhancers	NHDF-Ad	bronchial
8	chr1:71306800-71307200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:71312600-71313000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:71312600-71313000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:71312600-71313000	Enhancers	Adipose Nuclei	Adipose
12	chr1:71312600-71313200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:71312600-71313200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:71312600-71313400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:71312600-71313600	Enhancers	Fetal Heart	heart

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