Variant report

Variant	nsv871330
Chromosome Location	chr1:72104447-72140399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:72129396..72131726-chr1:72132350..72134861,2	K562	blood:
2	chr1:71915989..71918426-chr1:72103464..72106010,2	K562	blood:
3	chr1:72129396..72131726-chr1:72132350..72134861,2	K562	blood:

Extended variants
information (count: 1184 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1041676	chr1:72104447-72104448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546571701	chr1:72104463-72104464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181406081	chr1:72104468-72104469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562781697	chr1:72104494-72104495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568004496	chr1:72104542-72104543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142410789	chr1:72104606-72104607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552077796	chr1:72104610-72104611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530287720	chr1:72104640-72104641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534211319	chr1:72104656-72104657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199573293	chr1:72104663-72104664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375470942	chr1:72104664-72104665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370163618	chr1:72104703-72104704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151292578	chr1:72104738-72104739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs627774	chr1:72104835-72104836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12061960	chr1:72104847-72104848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371491907	chr1:72104850-72104851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61765044	chr1:72104887-72104888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111324697	chr1:72104889-72104890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571535466	chr1:72104890-72104891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556393416	chr1:72104930-72104931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576334458	chr1:72104951-72104952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112604248	chr1:72104986-72104987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538544185	chr1:72105037-72105038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558830207	chr1:72105078-72105079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115854698	chr1:72105177-72105178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541025186	chr1:72105209-72105210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560609846	chr1:72105217-72105218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537232885	chr1:72105220-72105221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186418017	chr1:72105222-72105223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543160166	chr1:72105225-72105226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562719379	chr1:72105229-72105230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531819814	chr1:72105280-72105281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551750724	chr1:72105335-72105336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12143094	chr1:72105376-72105377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527637946	chr1:72105385-72105386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78268538	chr1:72105422-72105423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572204599	chr1:72105520-72105521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567711861	chr1:72105523-72105524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536724833	chr1:72105547-72105548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550334246	chr1:72105549-72105550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569835440	chr1:72105555-72105556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538849654	chr1:72105575-72105576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34198851	chr1:72105580-72105581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115423855	chr1:72105647-72105648	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576182148	chr1:72105658-72105659	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534652181	chr1:72105664-72105665	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534848819	chr1:72105669-72105670	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117786606	chr1:72105700-72105701	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140234508	chr1:72105739-72105740	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191763495	chr1:72105772-72105773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Epilepsy	20502679	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72104000-72104600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:72104000-72104600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:72104000-72105600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:72104000-72105800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:72104200-72104600	Enhancers	HSMM	muscle
6	chr1:72104200-72104800	Enhancers	Osteobl	bone
7	chr1:72104400-72105400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:72104600-72105800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:72104600-72105800	Weak transcription	HSMM	muscle
10	chr1:72104800-72105200	Enhancers	Thymus	Thymus
11	chr1:72105200-72107200	Weak transcription	Thymus	Thymus
12	chr1:72105400-72106200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:72105400-72106800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:72105600-72106200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:72105600-72106200	Enhancers	Adipose Nuclei	Adipose
16	chr1:72105600-72106400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:72105600-72106400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:72105600-72107200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:72105800-72106200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:72105800-72106400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:72105800-72106600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:72106000-72106200	Enhancers	HSMM	muscle
23	chr1:72106200-72107800	Weak transcription	Adipose Nuclei	Adipose
24	chr1:72106200-72108400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:72106400-72106800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:72106400-72108200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:72106400-72109000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:72106600-72107000	Enhancers	Brain Substantia Nigra	brain
29	chr1:72106800-72107000	Enhancers	Right Atrium	heart
30	chr1:72107200-72107800	Enhancers	Thymus	Thymus
31	chr1:72107200-72108800	Enhancers	Fetal Thymus	thymus
32	chr1:72107400-72107600	Enhancers	Left Ventricle	heart
33	chr1:72107600-72107800	Enhancers	Right Atrium	heart
34	chr1:72107800-72108200	Enhancers	Adipose Nuclei	Adipose
35	chr1:72107800-72109000	Enhancers	Colon Smooth Muscle	Colon
36	chr1:72108400-72111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:72109000-72109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:72109000-72114000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:72111800-72112400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:72113200-72113400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:72113200-72113600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:72113200-72115200	Enhancers	Fetal Stomach	stomach
43	chr1:72113400-72113800	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:72113800-72114000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:72114000-72114200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:72114000-72114400	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:72114000-72117000	Enhancers	Colon Smooth Muscle	Colon
48	chr1:72114400-72115200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:72114800-72115400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:72115000-72115600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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