Variant report

Variant	esv3348609
Chromosome Location	chr1:78607051-78607824
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	chr1:78605308..78608170-chr1:78609160..78611288,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7518243	chr1:78607092-78607093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs543459122	chr1:78607111-78607112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369916802	chr1:78607131-78607132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529190054	chr1:78607157-78607158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541013482	chr1:78607179-78607180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187620104	chr1:78607196-78607197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193229411	chr1:78607201-78607202	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551137350	chr1:78607226-78607227	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs586300	chr1:78607268-78607269	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs78362692	chr1:78607340-78607341	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs644359	chr1:78607351-78607352	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs633769	chr1:78607374-78607375	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs74093228	chr1:78607413-78607414	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185732691	chr1:78607454-78607455	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554205921	chr1:78607466-78607467	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566340963	chr1:78607483-78607484	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540063023	chr1:78607487-78607488	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558351578	chr1:78607533-78607534	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576216611	chr1:78607586-78607587	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543494865	chr1:78607659-78607660	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535898560	chr1:78607722-78607723	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555434684	chr1:78607746-78607747	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115671737	chr1:78607747-78607748	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140949538	chr1:78607767-78607768	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558288318	chr1:78607772-78607773	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs578100795	chr1:78607786-78607787	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
2	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:78580200-78608600	Weak transcription	HepG2	liver
4	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:78586400-78608600	Weak transcription	Colonic Mucosa	Colon
6	chr1:78587400-78607200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:78600000-78607200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:78601600-78607200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:78603000-78608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:78603200-78609000	Weak transcription	Fetal Stomach	stomach
11	chr1:78603400-78608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:78605600-78607400	Enhancers	Liver	Liver
13	chr1:78606200-78608000	Enhancers	Fetal Intestine Small	intestine
14	chr1:78607200-78607400	Enhancers	GM12878-XiMat	blood
15	chr1:78607200-78607800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:78607200-78608000	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:78607200-78609600	Enhancers	Fetal Intestine Large	intestine
18	chr1:78607200-78609600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:78607200-78609800	Enhancers	Small Intestine	intestine
20	chr1:78607400-78608000	Flanking Active TSS	Liver	Liver
21	chr1:78607400-78608000	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:78607600-78608000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:78607600-78608600	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:78607600-78608600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:78607600-78609200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:78607800-78608600	Weak transcription	Rectal Mucosa Donor 29	rectum

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