Variant report

Variant	esv1820661
Chromosome Location	chr1:84712417-84715932
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	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226970	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141518700	chr1:84712432-84712433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191282352	chr1:84712467-84712468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147028038	chr1:84712484-84712485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552830934	chr1:84712498-84712499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569401837	chr1:84712526-84712527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72713015	chr1:84712529-84712530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554108356	chr1:84712532-84712533	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574212148	chr1:84712549-84712550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533618707	chr1:84712586-84712587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553587332	chr1:84712587-84712588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576961521	chr1:84712620-84712621	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545827262	chr1:84712648-84712649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138318382	chr1:84712655-84712656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149312216	chr1:84712687-84712688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114643635	chr1:84712743-84712744	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544611407	chr1:84712759-84712760	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576148762	chr1:84712805-84712806	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145213374	chr1:84712832-84712833	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs316629	chr1:84712851-84712852	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142258696	chr1:84712901-84712902	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572129169	chr1:84712922-84712923	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143608742	chr1:84712965-84712966	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547105731	chr1:84713027-84713028	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560714944	chr1:84713029-84713030	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540760547	chr1:84713064-84713065	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532742320	chr1:84713073-84713074	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56184856	chr1:84713099-84713100	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531171768	chr1:84713136-84713137	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146050311	chr1:84713153-84713154	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35487062	chr1:84713154-84713155	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs386367516	chr1:84713157-84713158	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397809138	chr1:84713158-84713159	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569547734	chr1:84713322-84713323	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182684206	chr1:84713357-84713358	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577755597	chr1:84713361-84713362	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567700803	chr1:84713432-84713433	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533684051	chr1:84713451-84713452	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141759620	chr1:84713463-84713464	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs72940054	chr1:84713499-84713500	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539630980	chr1:84713546-84713547	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543296668	chr1:84713601-84713602	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	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
43	rs552757455	chr1:84713639-84713640	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542123954	chr1:84713659-84713660	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555042606	chr1:84713673-84713674	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150530524	chr1:84713719-84713720	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540584848	chr1:84713723-84713724	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560643315	chr1:84713747-84713748	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185437426	chr1:84713759-84713760	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546397927	chr1:84713804-84713805	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84675200-84712800	Weak transcription	NH-A	brain
2	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:84701200-84713200	Weak transcription	Colonic Mucosa	Colon
6	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:84701400-84713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:84701400-84713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
12	chr1:84701400-84719800	Weak transcription	HSMM	muscle
13	chr1:84702800-84713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:84705800-84713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:84706000-84713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:84706000-84713400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:84706200-84713400	Weak transcription	Fetal Intestine Large	intestine
19	chr1:84706600-84713000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:84711000-84712800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:84711000-84713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:84711200-84713000	Enhancers	K562	blood
23	chr1:84711600-84712600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:84711600-84713000	Enhancers	A549	lung
25	chr1:84711600-84713200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:84711800-84713800	Flanking Active TSS	HUVEC	blood vessel
27	chr1:84712000-84713000	Weak transcription	Osteobl	bone
28	chr1:84712200-84713200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:84712400-84713200	Weak transcription	HepG2	liver
30	chr1:84712400-84713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:84712400-84713600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:84712400-84713800	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:84712600-84712800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:84712600-84713400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:84712800-84713200	Enhancers	NH-A	brain
36	chr1:84712800-84713600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:84712800-84713600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:84713000-84713200	Flanking Active TSS	Osteobl	bone
39	chr1:84713000-84713400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:84713000-84713400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:84713000-84713400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:84713000-84713400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:84713000-84713400	Flanking Active TSS	K562	blood
44	chr1:84713000-84713600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:84713000-84713600	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:84713000-84713800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:84713000-84714000	Flanking Active TSS	A549	lung
48	chr1:84713200-84713400	Enhancers	Osteobl	bone
49	chr1:84713200-84713600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:84713200-84713600	Enhancers	Colonic Mucosa	Colon

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