Variant report

Variant	nsv871223
Chromosome Location	chr1:86724523-86784804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86782319..86784371-chr1:86788176..86791110,3	K562	blood:
2	chr1:86767271..86769500-chr1:86772874..86775446,2	MCF-7	breast:
3	chr1:86732233..86735923-chr1:86736339..86739151,3	K562	blood:
4	chr1:86732233..86735923-chr1:86736339..86739151,3	K562	blood:
5	chr1:86774306..86776171-chr1:86780419..86782294,2	K562	blood:
6	chr1:86774306..86776171-chr1:86780419..86782294,2	K562	blood:
7	chr1:86767271..86769500-chr1:86772874..86775446,2	MCF-7	breast:

Extended variants
information (count: 1643 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1643 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs912073	chr1:86724523-86724524	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs189982963	chr1:86724538-86724539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543853582	chr1:86724562-86724563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560967834	chr1:86724570-86724571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560530010	chr1:86724589-86724590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181560916	chr1:86724645-86724646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79674622	chr1:86724660-86724661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566385348	chr1:86724661-86724662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528652544	chr1:86724708-86724709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72718044	chr1:86724727-86724728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561623555	chr1:86724779-86724780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184679079	chr1:86724900-86724901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147425622	chr1:86724942-86724943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537587867	chr1:86724961-86724962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111275496	chr1:86724972-86724973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373587828	chr1:86724973-86724974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374418856	chr1:86724989-86724990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557049703	chr1:86724990-86724991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139714079	chr1:86724997-86724998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188383007	chr1:86725036-86725037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553189919	chr1:86725061-86725062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572804018	chr1:86725128-86725129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544800367	chr1:86725219-86725220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35983404	chr1:86725228-86725229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143620465	chr1:86725230-86725231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368474140	chr1:86725315-86725316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530636054	chr1:86725327-86725328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544267813	chr1:86725354-86725355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550323410	chr1:86725430-86725431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529651668	chr1:86725439-86725440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147169774	chr1:86725462-86725463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528775597	chr1:86725502-86725503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148626474	chr1:86725504-86725505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75529560	chr1:86725517-86725518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180940268	chr1:86725525-86725526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370841256	chr1:86725534-86725535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369978681	chr1:86725544-86725545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551990857	chr1:86725573-86725574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373060496	chr1:86725623-86725624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571899810	chr1:86725631-86725632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146488073	chr1:86725688-86725689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563844070	chr1:86725708-86725709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9433452	chr1:86725720-86725721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567660853	chr1:86725757-86725758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185175053	chr1:86725808-86725809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78182019	chr1:86725857-86725858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546311386	chr1:86725881-86725882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552150528	chr1:86725901-86725902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113952525	chr1:86725920-86725921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192854158	chr1:86728813-86728814	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86723600-86725400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:86723800-86724800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:86723800-86724800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:86723800-86725200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:86724000-86725400	Enhancers	NHDF-Ad	bronchial
6	chr1:86724600-86725600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:86724800-86725200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:86725000-86725600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:86725200-86725800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:86725600-86726000	Enhancers	Fetal Intestine Small	intestine
11	chr1:86728800-86729000	Enhancers	Fetal Kidney	kidney
12	chr1:86729000-86729200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:86731200-86731400	Enhancers	GM12878-XiMat	blood
14	chr1:86736200-86738000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:86738000-86742400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:86742200-86743800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:86742400-86744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:86743200-86743600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:86743200-86744200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:86743400-86743800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:86743400-86744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:86743400-86744000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:86743400-86744200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:86743600-86744000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:86743800-86744200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:86743800-86746400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:86743800-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:86744200-86747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:86747200-86747600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:86747200-86748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:86747600-86748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:86748000-86754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:86748600-86748800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:86753400-86755200	Enhancers	Fetal Stomach	stomach
35	chr1:86753600-86754800	Enhancers	Fetal Muscle Leg	muscle
36	chr1:86754600-86754800	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:86754800-86755600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:86754800-86756400	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:86755000-86756000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:86755200-86756400	Weak transcription	Fetal Stomach	stomach
41	chr1:86755600-86761600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:86756400-86757000	Enhancers	Fetal Stomach	stomach
43	chr1:86756600-86756800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:86756600-86756800	Enhancers	Fetal Muscle Leg	muscle
45	chr1:86757000-86762000	Weak transcription	Fetal Stomach	stomach
46	chr1:86758600-86758800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:86761600-86761800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:86761600-86762600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:86761600-86762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:86761600-86762800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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