Variant report

Variant	nsv871908
Chromosome Location	chr1:72315820-72370014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1515 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1515 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532348674	chr1:72315820-72315821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540725571	chr1:72315821-72315822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529652590	chr1:72315824-72315825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530200619	chr1:72315833-72315834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144022465	chr1:72315849-72315850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572594459	chr1:72315862-72315863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570210064	chr1:72315902-72315903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539357283	chr1:72315908-72315909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115253779	chr1:72315923-72315924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566105645	chr1:72315950-72315951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145972250	chr1:72315972-72315973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1858552	chr1:72316000-72316001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558623336	chr1:72316002-72316003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557166424	chr1:72316012-72316013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577053844	chr1:72316029-72316030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181480640	chr1:72316031-72316032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187426988	chr1:72316058-72316059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371227657	chr1:72316070-72316071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572478911	chr1:72316076-72316077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541443063	chr1:72316093-72316094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561408436	chr1:72316129-72316130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530526295	chr1:72316139-72316140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550106515	chr1:72316150-72316151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72931720	chr1:72316163-72316164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532670816	chr1:72316172-72316173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190240181	chr1:72316254-72316255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566391098	chr1:72316302-72316303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576547770	chr1:72316322-72316323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538509353	chr1:72316394-72316395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76391817	chr1:72316440-72316441	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373956991	chr1:72316466-72316467	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28396237	chr1:72316541-72316542	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568564971	chr1:72316555-72316556	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117899418	chr1:72316640-72316641	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368164732	chr1:72316663-72316664	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576996367	chr1:72316675-72316676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539279060	chr1:72316689-72316690	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs148599379	chr1:72316712-72316713	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572812235	chr1:72316727-72316728	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541380110	chr1:72316838-72316839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561396236	chr1:72316849-72316850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574975765	chr1:72316892-72316893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80281879	chr1:72316919-72316920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564046231	chr1:72316920-72316921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532703315	chr1:72317010-72317011	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs374975719	chr1:72317012-72317013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532169923	chr1:72317024-72317025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs72931724	chr1:72317063-72317064	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs367743887	chr1:72317073-72317074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs118157389	chr1:72317088-72317089	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72315800-72316400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:72316000-72317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:72316400-72316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:72316400-72317000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:72316400-72318400	Enhancers	Dnd41	blood
6	chr1:72316600-72316800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:72316600-72317000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:72316600-72317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:72316600-72317200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:72316600-72318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:72316800-72318400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:72317000-72317200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:72317000-72323000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:72317200-72318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:72317600-72318000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:72317600-72318200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:72317800-72319200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:72317800-72322200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:72318000-72319200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:72318400-72322200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:72318400-72332400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:72319200-72319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:72319200-72323000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:72319400-72319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:72319600-72322800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:72319600-72323000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:72322000-72322600	Enhancers	NHEK	skin
28	chr1:72322200-72322400	Enhancers	NHDF-Ad	bronchial
29	chr1:72322200-72323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:72322200-72324400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:72322400-72323600	Weak transcription	NHDF-Ad	bronchial
32	chr1:72322400-72324000	Enhancers	Dnd41	blood
33	chr1:72322600-72323200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:72322600-72324000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:72322600-72326400	Weak transcription	NHEK	skin
36	chr1:72322800-72323400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:72322800-72324200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:72322800-72324400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:72323000-72323800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:72323000-72324000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:72323000-72324000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:72323200-72323600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:72323400-72323800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:72323400-72323800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:72323400-72323800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:72323400-72324000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:72323400-72324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:72323400-72324200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:72323400-72324200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:72323400-72324200	Enhancers	Adipose Nuclei	Adipose

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