Variant report

Variant	nsv1012808
Chromosome Location	chr1:86455710-86470489
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	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:

Extended variants
information (count: 680 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12035544	chr1:86455740-86455741	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551208936	chr1:86455745-86455746	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375282814	chr1:86455766-86455767	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567560644	chr1:86455808-86455809	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536612491	chr1:86455812-86455813	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140557933	chr1:86455818-86455819	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76691442	chr1:86455819-86455820	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553211703	chr1:86455823-86455824	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567467299	chr1:86455855-86455856	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144889404	chr1:86455859-86455860	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538868093	chr1:86455886-86455887	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537539681	chr1:86455904-86455905	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575653446	chr1:86455940-86455941	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186365665	chr1:86455970-86455971	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561205146	chr1:86455994-86455995	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574373611	chr1:86456029-86456030	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189205960	chr1:86456030-86456031	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560026597	chr1:86456039-86456040	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532069171	chr1:86456047-86456048	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551606960	chr1:86456048-86456049	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565140515	chr1:86456081-86456082	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530968938	chr1:86456087-86456088	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181590943	chr1:86456108-86456109	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567920197	chr1:86456123-86456124	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536276297	chr1:86456143-86456144	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115739480	chr1:86456169-86456170	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369930973	chr1:86456171-86456172	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567009493	chr1:86456226-86456227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs12406514	chr1:86456230-86456231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149221214	chr1:86456293-86456294	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs115866531	chr1:86456318-86456319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs373142818	chr1:86456339-86456340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186362711	chr1:86456364-86456365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549923990	chr1:86456374-86456375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538019393	chr1:86456419-86456420	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570005815	chr1:86456427-86456428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538634576	chr1:86456485-86456486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554596632	chr1:86456510-86456511	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112365577	chr1:86456580-86456581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558119120	chr1:86456662-86456663	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6656538	chr1:86456685-86456686	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs539890664	chr1:86456686-86456687	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559715920	chr1:86456702-86456703	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367577160	chr1:86456751-86456752	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191265539	chr1:86456760-86456761	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150317121	chr1:86456796-86456797	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531448527	chr1:86456800-86456801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547934502	chr1:86456809-86456810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs545502760	chr1:86456811-86456812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs117376809	chr1:86456812-86456813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86449400-86466200	Weak transcription	Fetal Lung	lung
2	chr1:86453200-86456400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86454400-86458200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:86455400-86456200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:86455600-86456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:86455600-86456000	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:86455600-86456000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr1:86455600-86457000	Flanking Active TSS	GM12878-XiMat	blood
9	chr1:86456000-86456200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:86456000-86456200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:86456000-86457000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:86456200-86456600	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:86456200-86457200	Enhancers	Dnd41	blood
14	chr1:86456200-86457600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:86456200-86464600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:86456400-86457400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:86456600-86457200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:86456800-86457000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:86457000-86458800	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:86457000-86458800	Active TSS	GM12878-XiMat	blood
21	chr1:86457200-86457400	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:86457200-86457400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:86457200-86459800	Weak transcription	Dnd41	blood
24	chr1:86457400-86458000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:86457400-86458200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:86457400-86458600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:86457600-86458800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:86458000-86459000	Active TSS	Primary hematopoietic stem cells	blood
29	chr1:86458000-86459200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:86458200-86458400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:86458200-86458400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:86458200-86458400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:86458200-86458800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:86458400-86458800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:86458400-86458800	Active TSS	Osteobl	bone
36	chr1:86458400-86459000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:86458400-86459000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:86458400-86459000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:86458400-86459000	Active TSS	Adipose Nuclei	Adipose
40	chr1:86458400-86459200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:86458400-86459200	Active TSS	Right Atrium	heart
42	chr1:86458600-86459000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:86458600-86459000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:86458600-86459000	Enhancers	NH-A	brain
45	chr1:86458600-86459200	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:86458800-86459000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:86458800-86459000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:86458800-86459000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:86458800-86459200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:86458800-86459200	Flanking Active TSS	Osteobl	bone

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