Variant report

Variant	esv1812293
Chromosome Location	chr1:84713610-84719245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:
2	chr1:84719167..84721681-chr1:84724768..84726729,2	MCF-7	breast:
3	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:
4	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:
5	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226970	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs316628	chr1:84713610-84713611	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552757455	chr1:84713639-84713640	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542123954	chr1:84713659-84713660	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555042606	chr1:84713673-84713674	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150530524	chr1:84713719-84713720	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540584848	chr1:84713723-84713724	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560643315	chr1:84713747-84713748	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185437426	chr1:84713759-84713760	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546397927	chr1:84713804-84713805	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12407180	chr1:84713833-84713834	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562915658	chr1:84713849-84713850	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559552482	chr1:84713948-84713949	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77166071	chr1:84713980-84713981	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs611467	chr1:84714040-84714041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548729297	chr1:84714108-84714109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567766421	chr1:84714136-84714137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554343885	chr1:84714154-84714155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527294921	chr1:84714194-84714195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563575902	chr1:84714219-84714220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72940058	chr1:84714220-84714221	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539134444	chr1:84714222-84714223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148224994	chr1:84714272-84714273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375841742	chr1:84714309-84714310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140237974	chr1:84714323-84714324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568464602	chr1:84714357-84714358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12041490	chr1:84714419-84714420	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141655334	chr1:84714420-84714421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190938656	chr1:84714423-84714424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539906426	chr1:84714447-84714448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183552550	chr1:84714501-84714502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146174674	chr1:84714513-84714514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372467554	chr1:84714522-84714523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540645297	chr1:84714544-84714545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553850840	chr1:84714560-84714561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11432267	chr1:84714564-84714565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577294825	chr1:84714577-84714578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369698713	chr1:84714580-84714581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs118032627	chr1:84714623-84714624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563134967	chr1:84714681-84714682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569938057	chr1:84714688-84714689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529206968	chr1:84714808-84714809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531788356	chr1:84714826-84714827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187480021	chr1:84714840-84714841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562055495	chr1:84714850-84714851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs72940061	chr1:84714854-84714855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538428025	chr1:84714907-84714908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72940062	chr1:84714994-84714995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139096786	chr1:84715066-84715067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72940063	chr1:84715113-84715114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375419629	chr1:84715124-84715125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
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
Breast cancer	17133270	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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
6	chr1:84701400-84719800	Weak transcription	HSMM	muscle
7	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:84711000-84713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:84711800-84713800	Flanking Active TSS	HUVEC	blood vessel
10	chr1:84712400-84713800	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:84713000-84713800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:84713000-84714000	Flanking Active TSS	A549	lung
13	chr1:84713200-84713800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:84713200-84713800	Enhancers	HMEC	breast
15	chr1:84713200-84713800	Flanking Active TSS	NH-A	brain
16	chr1:84713400-84713800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:84713400-84713800	Active TSS	Hela-S3	cervix
18	chr1:84713400-84713800	Flanking Active TSS	Osteobl	bone
19	chr1:84713400-84718800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:84713600-84714000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:84713600-84718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:84713600-84718400	Weak transcription	Colonic Mucosa	Colon
23	chr1:84713600-84718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:84713800-84714000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:84713800-84714000	Enhancers	Hela-S3	cervix
26	chr1:84713800-84714200	Enhancers	HUVEC	blood vessel
27	chr1:84713800-84716600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:84713800-84718000	Weak transcription	NH-A	brain
29	chr1:84713800-84718200	Weak transcription	Osteobl	bone
30	chr1:84713800-84719000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:84714000-84714200	Enhancers	A549	lung
32	chr1:84714000-84719600	Weak transcription	Hela-S3	cervix
33	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:84714200-84715000	Weak transcription	A549	lung
35	chr1:84714200-84718200	Weak transcription	HUVEC	blood vessel
36	chr1:84715000-84715200	Enhancers	A549	lung
37	chr1:84715200-84718200	Weak transcription	A549	lung
38	chr1:84715600-84718400	Weak transcription	Brain Angular Gyrus	brain
39	chr1:84717400-84717600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:84718000-84720600	Enhancers	NH-A	brain
41	chr1:84718200-84719600	Enhancers	Brain Hippocampus Middle	brain
42	chr1:84718200-84720200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:84718200-84720200	Enhancers	NHDF-Ad	bronchial
44	chr1:84718200-84720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:84718200-84720400	Enhancers	HUVEC	blood vessel
46	chr1:84718200-84720600	Enhancers	Osteobl	bone
47	chr1:84718200-84721400	Enhancers	A549	lung
48	chr1:84718200-84723400	Enhancers	Brain Substantia Nigra	brain
49	chr1:84718400-84718600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:84718400-84718600	Enhancers	Brain Angular Gyrus	brain

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