Variant report

Variant	esv3445672
Chromosome Location	chr1:94259414-94263012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94262988..94265962-chr1:94267220..94268908,3	K562	blood:
2	chr1:94262184..94264332-chr1:94311696..94313521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260464	chromatin interactions
ENSG00000211575	chromatin interactions
ENSG00000137936	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201826995	chr1:94259681-94259682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201902321	chr1:94259729-94259730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199919418	chr1:94259844-94259845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532459481	chr1:94259942-94259943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373739017	chr1:94259986-94259987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200874737	chr1:94260066-94260067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528008702	chr1:94260167-94260168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549230454	chr1:94260248-94260249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574859640	chr1:94260253-94260254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559646586	chr1:94260269-94260270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201543452	chr1:94260283-94260284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200791285	chr1:94260524-94260525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371640292	chr1:94260649-94260650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113476411	chr1:94260732-94260733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61782394	chr1:94260744-94260745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374512360	chr1:94260772-94260773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368631679	chr1:94260784-94260785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372438842	chr1:94260907-94260908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377011172	chr1:94260932-94260933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367992483	chr1:94261000-94261001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371878595	chr1:94261005-94261006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376693268	chr1:94261219-94261220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61782396	chr1:94261276-94261277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202001508	chr1:94261292-94261293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567603128	chr1:94261424-94261425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551379140	chr1:94261600-94261601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556290750	chr1:94261886-94261887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12760932	chr1:94261932-94261933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549953947	chr1:94261944-94261945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12405335	chr1:94261968-94261969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538712192	chr1:94261976-94261977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12408741	chr1:94261982-94261983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572317946	chr1:94261983-94261984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536635217	chr1:94261984-94261985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554934592	chr1:94261995-94261996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576399078	chr1:94262004-94262005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543680372	chr1:94262009-94262010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112872989	chr1:94262038-94262039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12405340	chr1:94262043-94262044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12408744	chr1:94262048-94262049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12408745	chr1:94262057-94262058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559315454	chr1:94262136-94262137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189498517	chr1:94262192-94262193	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs6679619	chr1:94262201-94262202	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs561287090	chr1:94262202-94262203	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs531844908	chr1:94262225-94262226	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549966387	chr1:94262249-94262250	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571722561	chr1:94262319-94262320	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs532656599	chr1:94262320-94262321	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115695719	chr1:94262384-94262385	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94246800-94266600	Weak transcription	A549	lung
2	chr1:94249000-94263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:94252000-94263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:94262200-94262400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:94262400-94262600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94262400-94270200	Enhancers	Hela-S3	cervix
7	chr1:94262600-94262800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:94262600-94262800	Enhancers	Fetal Muscle Leg	muscle
9	chr1:94262600-94263600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:94262600-94264800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:94262600-94265000	Enhancers	HUVEC	blood vessel
12	chr1:94262800-94263400	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:94262800-94263600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:94263000-94265000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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