Variant report

Variant	nsv461951
Chromosome Location	chr1:72634912-72707226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2183 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2183 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1157072	chr1:72634912-72634913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551208820	chr1:72634916-72634917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202096780	chr1:72634962-72634963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147040070	chr1:72634968-72634969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2630431	chr1:72634986-72634987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547002013	chr1:72635005-72635006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552381147	chr1:72635035-72635036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566999561	chr1:72635039-72635040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535942317	chr1:72635086-72635087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576789782	chr1:72635165-72635166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78993686	chr1:72635192-72635193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191341530	chr1:72635242-72635243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552048594	chr1:72635254-72635255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568995032	chr1:72635283-72635284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570428828	chr1:72635329-72635330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34029663	chr1:72635339-72635340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142640553	chr1:72635566-72635567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370111729	chr1:72635593-72635594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567676665	chr1:72635632-72635633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535083089	chr1:72635700-72635701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77508939	chr1:72635726-72635727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554838088	chr1:72635758-72635759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539454595	chr1:72635779-72635780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539868288	chr1:72635808-72635809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183876380	chr1:72635848-72635849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367765958	chr1:72635940-72635941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12134600	chr1:72635996-72635997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
28	rs548532381	chr1:72636011-72636012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2630432	chr1:72636106-72636107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562145074	chr1:72636120-72636121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531105128	chr1:72636130-72636131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559135093	chr1:72636161-72636162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189329200	chr1:72636186-72636187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564805770	chr1:72636190-72636191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533646107	chr1:72636207-72636208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547063476	chr1:72636217-72636218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74328918	chr1:72636239-72636240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200332459	chr1:72636244-72636245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566862947	chr1:72636245-72636246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529381548	chr1:72636246-72636247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549413244	chr1:72636247-72636248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192548868	chr1:72636298-72636299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57258041	chr1:72636306-72636307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138885895	chr1:72636308-72636309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372303283	chr1:72636340-72636341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12072319	chr1:72636353-72636354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553516012	chr1:72636356-72636357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143072170	chr1:72636390-72636391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574840646	chr1:72636394-72636395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542282770	chr1:72636408-72636409	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72633000-72636000	Weak transcription	HUVEC	blood vessel
2	chr1:72636000-72638600	Enhancers	HUVEC	blood vessel
3	chr1:72636600-72637000	Enhancers	Fetal Lung	lung
4	chr1:72642200-72642400	Enhancers	Colon Smooth Muscle	Colon
5	chr1:72642800-72643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:72643400-72644200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:72643400-72644200	Enhancers	NHDF-Ad	bronchial
8	chr1:72643400-72644400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:72643400-72644400	Enhancers	Osteobl	bone
10	chr1:72643400-72644800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:72643600-72643800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:72643600-72644200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:72643600-72644200	Enhancers	HSMM	muscle
14	chr1:72643600-72644200	Enhancers	HSMMtube	muscle
15	chr1:72643600-72644400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:72643600-72644600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:72643600-72644600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:72643600-72645200	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:72643800-72644200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:72643800-72644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:72643800-72644400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:72643800-72644400	Enhancers	Colon Smooth Muscle	Colon
23	chr1:72644000-72644400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:72644200-72644600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:72644400-72644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:72644400-72648800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:72644400-72649000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:72644400-72649000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:72644400-72649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:72644400-72649200	Weak transcription	Osteobl	bone
31	chr1:72644400-72668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:72644600-72648000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:72644600-72649200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:72644600-72649600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:72644600-72649800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:72644600-72649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:72644800-72648800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:72645200-72649200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:72646400-72647000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:72647000-72647200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:72647200-72648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:72647800-72648000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:72648000-72648200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:72648000-72648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:72648200-72648600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:72648200-72649000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:72648600-72652000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:72648800-72649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:72648800-72649600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:72648800-72651200	Enhancers	Cortex derived primary cultured neurospheres	brain

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