Variant report

Variant	esv1850335
Chromosome Location	chr1:76344705-76379497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76373718..76374271-chr1:76796370..76797302,2	MCF-7	breast:
2	chr1:76349813..76351661-chr1:76356485..76359051,2	K562	blood:
3	chr1:76374124..76374771-chr1:76619576..76620091,2	MCF-7	breast:
4	chr1:76349813..76351661-chr1:76356485..76359051,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148222507	chr1:76352699-76352700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370401293	chr1:76352733-76352734	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs55993912	chr1:76352736-76352737	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368391541	chr1:76352773-76352774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547808959	chr1:76352808-76352809	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567023137	chr1:76352810-76352811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117630575	chr1:76352823-76352824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558841382	chr1:76352846-76352847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78556436	chr1:76352875-76352876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142732926	chr1:76352889-76352890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547991187	chr1:76352934-76352935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556681417	chr1:76352951-76352952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35970385	chr1:76352983-76352984	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147358083	chr1:76352989-76352990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372202932	chr1:76353019-76353020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371222820	chr1:76353116-76353117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554153941	chr1:76353149-76353150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114874674	chr1:76366435-76366436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74764793	chr1:76366456-76366457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538952393	chr1:76366460-76366461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142090223	chr1:76366487-76366488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569424801	chr1:76366620-76366621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183472838	chr1:76366631-76366632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555027093	chr1:76366634-76366635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188009044	chr1:76366640-76366641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527273238	chr1:76366730-76366731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540674180	chr1:76366766-76366767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559000892	chr1:76366771-76366772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34285781	chr1:76366822-76366823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577961067	chr1:76366859-76366860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1586936	chr1:76366877-76366878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61770550	chr1:76366966-76366967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs143095529	chr1:76367006-76367007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148216710	chr1:76367011-76367012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192232041	chr1:76367045-76367046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528185702	chr1:76367058-76367059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183609338	chr1:76367132-76367133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564536746	chr1:76367213-76367214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549632867	chr1:76367244-76367245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188658158	chr1:76367259-76367260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76646808	chr1:76367316-76367317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112683167	chr1:76367358-76367359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530285911	chr1:76367365-76367366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569795878	chr1:76367374-76367375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10873786	chr1:76367419-76367420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566929960	chr1:76367529-76367530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192724219	chr1:76367552-76367553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11161845	chr1:76367559-76367560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs570847436	chr1:76367564-76367565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537885801	chr1:76367571-76367572	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76352600-76353000	Active TSS	A549	lung
2	chr1:76353000-76353200	Enhancers	A549	lung
3	chr1:76366400-76368000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76366800-76367800	Enhancers	Fetal Heart	heart
5	chr1:76374600-76374800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:76374600-76375000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:76374600-76375000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:76374600-76375000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:76374600-76375000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:76374600-76375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:76374600-76375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:76374600-76375000	Enhancers	HMEC	breast
13	chr1:76374600-76375000	Enhancers	NHLF	lung
14	chr1:76375000-76375800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:76375800-76378000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:76376600-76377000	Enhancers	Fetal Heart	heart

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