Variant report

Variant	esv3498832
Chromosome Location	chr1:84514725-84525109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84507131..84508951-chr1:84514289..84516421,2	K562	blood:
2	chr1:84515190..84517358-chr1:84542033..84543983,2	K562	blood:
3	chr1:84524044..84526029-chr1:84541192..84543741,2	K562	blood:
4	chr1:84524529..84526369-chr1:84540016..84543741,3	K562	blood:
5	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
6	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
7	chr1:84506312..84509081-chr1:84514938..84517601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142875	chromatin interactions
ENSG00000271576	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191177523	chr1:84515194-84515195	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183850186	chr1:84515213-84515214	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550732531	chr1:84515216-84515217	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs141482529	chr1:84515247-84515248	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539491241	chr1:84515253-84515254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536504566	chr1:84515277-84515278	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150857902	chr1:84515314-84515315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12058259	chr1:84515374-84515375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs80201238	chr1:84515401-84515402	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs78876432	chr1:84515402-84515403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575424040	chr1:84515437-84515438	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538055286	chr1:84515477-84515478	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372192588	chr1:84515478-84515479	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376864349	chr1:84515500-84515501	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145356365	chr1:84515612-84515613	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540531507	chr1:84515630-84515631	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187865775	chr1:84515702-84515703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573143054	chr1:84515736-84515737	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190430482	chr1:84515748-84515749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75131820	chr1:84515829-84515830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530877311	chr1:84515915-84515916	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550767729	chr1:84515990-84515991	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs561096395	chr1:84516017-84516018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs115746265	chr1:84516023-84516024	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs626376	chr1:84516043-84516044	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs566495177	chr1:84516050-84516051	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs61766946	chr1:84516059-84516060	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552117228	chr1:84516062-84516063	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568869885	chr1:84516080-84516081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537894304	chr1:84516097-84516098	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554851865	chr1:84516107-84516108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76077037	chr1:84516130-84516131	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556826554	chr1:84516146-84516147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541067515	chr1:84516273-84516274	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553762908	chr1:84516347-84516348	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs810915	chr1:84516349-84516350	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs182760753	chr1:84516364-84516365	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs565240724	chr1:84516368-84516369	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112364778	chr1:84516439-84516440	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187453009	chr1:84516460-84516461	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544295023	chr1:84516469-84516470	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561186322	chr1:84516474-84516475	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530356485	chr1:84516482-84516483	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs523531	chr1:84516495-84516496	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547298481	chr1:84516498-84516499	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139816825	chr1:84516519-84516520	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560643405	chr1:84516574-84516575	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149928892	chr1:84516585-84516586	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs145024261	chr1:84516589-84516590	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs72711164	chr1:84516623-84516624	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84516200-84517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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