Variant report

Variant	esv2756845
Chromosome Location	chr1:73097100-73115205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:73113202..73113702-chr17:56736134..56736899,3	MCF-7	breast:
2	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
3	chr1:73113182..73114702-chr17:56734945..56736988,2	K562	blood:
4	chr1:73113202..73114702-chr17:56735176..56736818,3	MCF-7	breast:
5	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
6	chr1:73113182..73113702-chr17:56736111..56737064,10	MCF-7	breast:
7	chr1:73113182..73114702-chr17:56735103..56736837,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 379 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10749807	chr1:73097100-73097101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538259783	chr1:73097116-73097117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370308675	chr1:73097196-73097197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184463263	chr1:73097304-73097305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566311128	chr1:73097309-73097310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188420542	chr1:73097324-73097325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557882857	chr1:73097337-73097338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558571422	chr1:73097359-73097360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192960941	chr1:73097374-73097375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533787284	chr1:73097383-73097384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553204867	chr1:73097401-73097402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573223036	chr1:73097438-73097439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115770658	chr1:73097493-73097494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555668264	chr1:73097550-73097551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374451649	chr1:73097560-73097561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568851394	chr1:73097561-73097562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184130357	chr1:73097573-73097574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564613612	chr1:73097710-73097711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533129141	chr1:73097742-73097743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540649448	chr1:73097769-73097770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560451926	chr1:73097799-73097800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529184538	chr1:73097954-73097955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11587878	chr1:73097972-73097973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189481187	chr1:73098011-73098012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181027223	chr1:73098023-73098024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531576630	chr1:73098039-73098040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551151498	chr1:73098049-73098050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376105305	chr1:73098058-73098059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571326323	chr1:73098113-73098114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17093164	chr1:73098114-73098115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553368407	chr1:73098163-73098164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372398884	chr1:73098188-73098189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186423146	chr1:73098203-73098204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566958271	chr1:73098207-73098208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189568397	chr1:73098208-73098209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556064928	chr1:73098249-73098250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537978714	chr1:73098261-73098262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116444194	chr1:73098278-73098279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544793011	chr1:73098315-73098316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557943344	chr1:73098332-73098333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12726880	chr1:73098364-73098365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556097680	chr1:73098374-73098375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560484413	chr1:73098412-73098413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529350720	chr1:73098480-73098481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577582697	chr1:73098509-73098510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562813691	chr1:73098510-73098511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531361393	chr1:73098528-73098529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12029382	chr1:73098532-73098533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs114991231	chr1:73098547-73098548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527371660	chr1:73098572-73098573	Weak transcription	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
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73095000-73097200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:73095000-73100400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:73098600-73098800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:73098800-73099800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:73099800-73101400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:73100000-73102600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:73100000-73103000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:73100200-73104200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:73100400-73100600	Enhancers	NHDF-Ad	bronchial
10	chr1:73100400-73100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:73100400-73101600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:73100600-73100800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:73100600-73101400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:73100600-73101400	Weak transcription	NHDF-Ad	bronchial
15	chr1:73100600-73102000	Enhancers	Fetal Lung	lung
16	chr1:73100800-73101000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:73100800-73101000	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:73100800-73101200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:73100800-73102400	Enhancers	Brain Germinal Matrix	brain
20	chr1:73100800-73102600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:73100800-73102800	Enhancers	Osteobl	bone
22	chr1:73101000-73101600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:73101000-73103400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:73101200-73101600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:73101200-73102600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:73101200-73103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:73101200-73103400	Enhancers	Fetal Brain Female	brain
28	chr1:73101400-73101600	Enhancers	NHDF-Ad	bronchial
29	chr1:73101400-73101800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:73101400-73102600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:73101400-73103600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:73101600-73102000	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:73101600-73102000	Weak transcription	NHDF-Ad	bronchial
34	chr1:73101600-73102200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:73101600-73102200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:73101600-73103600	Enhancers	Fetal Brain Male	brain
37	chr1:73101800-73102000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:73101800-73102800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:73102000-73102400	Enhancers	NHDF-Ad	bronchial
40	chr1:73102200-73102600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:73102200-73102800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:73102200-73103200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:73102400-73102800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:73102400-73102800	Enhancers	Ovary	ovary
45	chr1:73102400-73103200	Weak transcription	Brain Germinal Matrix	brain
46	chr1:73102400-73104000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:73102600-73102800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:73102600-73103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:73102600-73103200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:73102600-73104000	Enhancers	HUES48 Cell Line	embryonic stem cell

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