Variant report

Variant	esv2763574
Chromosome Location	chr1:85539127-85542620
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	chr1:85535090..85537602-chr1:85538932..85540814,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17120570	chr1:85539127-85539128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12074154	chr1:85539150-85539151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375584961	chr1:85539172-85539173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537813948	chr1:85539175-85539176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368402816	chr1:85539200-85539201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4907023	chr1:85539237-85539238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs568633501	chr1:85539328-85539329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11161518	chr1:85539331-85539332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs139672416	chr1:85539355-85539356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562353437	chr1:85539368-85539369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117607288	chr1:85539378-85539379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555945465	chr1:85539489-85539490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551122584	chr1:85539505-85539506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77706336	chr1:85539561-85539562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575990474	chr1:85539562-85539563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541432088	chr1:85539585-85539586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562029817	chr1:85539659-85539660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75905611	chr1:85539708-85539709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530224734	chr1:85539764-85539765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1037741	chr1:85539791-85539792	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149776807	chr1:85539800-85539801	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1037742	chr1:85539804-85539805	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs371709357	chr1:85539867-85539868	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552717340	chr1:85539893-85539894	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183477949	chr1:85539908-85539909	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531756573	chr1:85539909-85539910	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548256262	chr1:85539912-85539913	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568771146	chr1:85539933-85539934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534200765	chr1:85539952-85539953	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553991926	chr1:85539967-85539968	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145066244	chr1:85540043-85540044	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76394957	chr1:85540051-85540052	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79490139	chr1:85540052-85540053	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75968801	chr1:85540053-85540054	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79356366	chr1:85540055-85540056	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188647274	chr1:85540059-85540060	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556243607	chr1:85540070-85540071	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576020626	chr1:85540093-85540094	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541841490	chr1:85540096-85540097	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555039189	chr1:85540116-85540117	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144007551	chr1:85540148-85540149	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572413090	chr1:85540162-85540163	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193165825	chr1:85540177-85540178	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149119811	chr1:85540243-85540244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200333565	chr1:85540249-85540250	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12035942	chr1:85540292-85540293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185346727	chr1:85540313-85540314	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11161519	chr1:85540338-85540339	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563015827	chr1:85540354-85540355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12063120	chr1:85540358-85540359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85529200-85539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:85529600-85552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85530000-85539600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:85538000-85540000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:85539600-85539800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:85539600-85541400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:85539800-85540200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:85539800-85541000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:85540000-85540600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:85540200-85554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:85540600-85553800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:85541000-85545000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:85541400-85547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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