Variant report

Variant	esv3693444
Chromosome Location	chr1:71487393-71489438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:
2	chr1:71488156..71490050-chr1:71494544..71497230,2	K562	blood:
3	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:
4	chr1:71488605..71491550-chr1:71545533..71547496,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-13	chr1:71489270-71489329	NONHSAT003876

Variant related genes	Relation type
ENSG00000229956	chromatin interactions
ENSG00000132485	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2300171	chr1:71487393-71487394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545464079	chr1:71487394-71487395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2300172	chr1:71487407-71487408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371753922	chr1:71487433-71487434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35206244	chr1:71487485-71487486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2300173	chr1:71487491-71487492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs370355985	chr1:71487527-71487528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142079280	chr1:71487536-71487537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564703048	chr1:71487544-71487545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532295655	chr1:71487564-71487565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2300174	chr1:71487614-71487615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373736922	chr1:71487724-71487725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570037407	chr1:71487758-71487759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547646033	chr1:71487760-71487761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148259764	chr1:71487767-71487768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10749799	chr1:71487785-71487786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs2300175	chr1:71487790-71487791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs2300176	chr1:71487812-71487813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569770250	chr1:71487925-71487926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs33929015	chr1:71488006-71488007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66540839	chr1:71488007-71488008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs33936437	chr1:71488009-71488010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs556814172	chr1:71488034-71488035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575095906	chr1:71488054-71488055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571845081	chr1:71488060-71488061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537213150	chr1:71488075-71488076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79660813	chr1:71488114-71488115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576842364	chr1:71488131-71488132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10789316	chr1:71488135-71488136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552659445	chr1:71488161-71488162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192147855	chr1:71488168-71488169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140289064	chr1:71488201-71488202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572394332	chr1:71488210-71488211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150339843	chr1:71488215-71488216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116478015	chr1:71488227-71488228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564355180	chr1:71488229-71488230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532488786	chr1:71488250-71488251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552660320	chr1:71488251-71488252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566179366	chr1:71488259-71488260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185074221	chr1:71488287-71488288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4437828	chr1:71488289-71488290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs138090559	chr1:71488290-71488291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537776465	chr1:71488300-71488301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187946035	chr1:71488314-71488315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75333554	chr1:71488371-71488372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4549988	chr1:71488372-71488373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs371772557	chr1:71488386-71488387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369342182	chr1:71488419-71488420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200900606	chr1:71488433-71488434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72077301	chr1:71488434-71488435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71481800-71501000	Weak transcription	K562	blood
2	chr1:71483800-71491400	Weak transcription	Aorta	Aorta
3	chr1:71485800-71494000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:71486600-71488000	Weak transcription	Fetal Heart	heart
5	chr1:71487000-71491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71487200-71495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:71488000-71488600	Enhancers	Fetal Heart	heart

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