Variant report

Variant	esv2421360
Chromosome Location	chr1:10543836-10545046
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	chr1:10543950..10546722-chr1:10553163..10555710,2	K562	blood:
2	chr1:10536910..10540005-chr1:10543843..10547119,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9970001	chr1:10543836-10543837	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558141049	chr1:10543885-10543886	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565247041	chr1:10543912-10543913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532289235	chr1:10543923-10543924	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142763418	chr1:10543936-10543937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569939166	chr1:10543943-10543944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565914597	chr1:10543946-10543947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200339722	chr1:10543987-10543988	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201126245	chr1:10543988-10543989	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141712023	chr1:10543989-10543990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56383935	chr1:10543991-10543992	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115332378	chr1:10544051-10544052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548522800	chr1:10544056-10544057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77101613	chr1:10544058-10544059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200948766	chr1:10544086-10544087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536651280	chr1:10544110-10544111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1210000	chr1:10544202-10544203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114796526	chr1:10544206-10544207	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570449326	chr1:10544229-10544230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34856066	chr1:10544234-10544235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397829158	chr1:10544236-10544237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139017436	chr1:10544287-10544288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553264775	chr1:10544293-10544294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578199873	chr1:10544329-10544330	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555266015	chr1:10544338-10544339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542886624	chr1:10544348-10544349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57443048	chr1:10544351-10544352	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576347130	chr1:10544356-10544357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184607918	chr1:10544371-10544372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565319631	chr1:10544386-10544387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532482893	chr1:10544387-10544388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2781232	chr1:10544388-10544389	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs60804740	chr1:10544389-10544390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188225353	chr1:10544424-10544425	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs192924108	chr1:10544441-10544442	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184758104	chr1:10544447-10544448	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189626075	chr1:10544450-10544451	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575128037	chr1:10544454-10544455	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530880839	chr1:10544475-10544476	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144142264	chr1:10544479-10544480	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570462661	chr1:10544480-10544481	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534391668	chr1:10544528-10544529	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs668805	chr1:10544547-10544548	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs139993157	chr1:10544577-10544578	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537479739	chr1:10544606-10544607	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs560981168	chr1:10544616-10544617	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75783592	chr1:10544640-10544641	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs669701	chr1:10544725-10544726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs576663324	chr1:10544749-10544750	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146727191	chr1:10544856-10544857	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	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
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	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
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	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
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
2	chr1:10536000-10544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:10536000-10548200	Weak transcription	Ovary	ovary
4	chr1:10536000-10549800	Weak transcription	Gastric	stomach
5	chr1:10536000-10549800	Weak transcription	Left Ventricle	heart
6	chr1:10536000-10550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
8	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
9	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:10536200-10544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:10536200-10544800	Weak transcription	Osteobl	bone
12	chr1:10536200-10555000	Weak transcription	NH-A	brain
13	chr1:10536400-10544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:10536400-10549400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:10536400-10549400	Weak transcription	A549	lung
16	chr1:10536400-10549600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:10536400-10549800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:10536400-10550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:10536400-10550000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:10536400-10553000	Weak transcription	Psoas Muscle	Psoas
21	chr1:10536400-10554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:10536400-10554600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:10536400-10554800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:10536400-10554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:10536400-10554800	Weak transcription	Fetal Brain Male	brain
26	chr1:10536400-10554800	Weak transcription	NHDF-Ad	bronchial
27	chr1:10536400-10555000	Weak transcription	Fetal Kidney	kidney
28	chr1:10536400-10555000	Weak transcription	HSMM	muscle
29	chr1:10536600-10544600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:10536600-10548200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:10536600-10549400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10536600-10549400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:10536600-10549400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:10536600-10549400	Weak transcription	Fetal Lung	lung
35	chr1:10536600-10549400	Weak transcription	GM12878-XiMat	blood
36	chr1:10536600-10549400	Weak transcription	Hela-S3	cervix
37	chr1:10536600-10549600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:10536600-10549800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:10536600-10550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:10536600-10550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:10536600-10550200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:10536600-10550200	Weak transcription	Brain Anterior Caudate	brain
43	chr1:10536600-10554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:10536600-10555000	Weak transcription	Brain Substantia Nigra	brain
45	chr1:10536800-10544400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:10536800-10549400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:10536800-10549600	Weak transcription	Placenta	Placenta
48	chr1:10536800-10549800	Weak transcription	Fetal Brain Female	brain
49	chr1:10536800-10549800	Weak transcription	Right Ventricle	heart
50	chr1:10536800-10550000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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