Variant report

Variant	nsv1005548
Chromosome Location	chr1:77388792-77430739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1426 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190227150	chr1:77388801-77388802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76093358	chr1:77388835-77388836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556301153	chr1:77388840-77388841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144504261	chr1:77388872-77388873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35697857	chr1:77388901-77388902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535931179	chr1:77388902-77388903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143871469	chr1:77388926-77388927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35184833	chr1:77388934-77388935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11811216	chr1:77388935-77388936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs5775369	chr1:77388966-77388967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397744689	chr1:77388977-77388978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61785573	chr1:77388979-77388980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572667671	chr1:77388982-77388983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546421559	chr1:77389028-77389029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558388839	chr1:77389092-77389093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145205694	chr1:77389189-77389190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543377750	chr1:77389210-77389211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182483217	chr1:77389233-77389234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368083350	chr1:77389243-77389244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186805028	chr1:77389244-77389245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191024484	chr1:77389334-77389335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9661207	chr1:77389337-77389338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200333555	chr1:77389355-77389356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182365402	chr1:77389399-77389400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375560891	chr1:77389411-77389412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9662288	chr1:77389416-77389417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372425509	chr1:77389426-77389427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568348356	chr1:77389472-77389473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550204919	chr1:77389478-77389479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189096314	chr1:77389479-77389480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58563308	chr1:77389525-77389526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145255218	chr1:77389531-77389532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540003634	chr1:77389595-77389596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193034602	chr1:77389598-77389599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532895793	chr1:77389616-77389617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576601797	chr1:77389629-77389630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543740169	chr1:77389652-77389653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184619838	chr1:77389693-77389694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573296902	chr1:77389760-77389761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546401582	chr1:77389765-77389766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111860302	chr1:77389792-77389793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149161143	chr1:77389803-77389804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565218520	chr1:77389816-77389817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545162484	chr1:77389828-77389829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187445828	chr1:77389850-77389851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191890039	chr1:77389866-77389867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114582445	chr1:77389932-77389933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548998570	chr1:77389933-77389934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57645905	chr1:77389936-77389937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17099711	chr1:77389951-77389952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77374600-77396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:77385200-77390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:77385200-77396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:77385800-77396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:77386800-77393600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:77393000-77393800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:77393200-77393400	Active TSS	Aorta	Aorta
8	chr1:77393400-77394800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:77393400-77429000	Weak transcription	Aorta	Aorta
10	chr1:77393600-77396600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:77393800-77395400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:77394000-77394400	Enhancers	NHEK	skin
13	chr1:77394000-77394800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:77394000-77394800	Enhancers	HMEC	breast
15	chr1:77394200-77394600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:77394400-77394800	Flanking Active TSS	NHEK	skin
17	chr1:77394600-77396600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:77394800-77395000	Enhancers	NHEK	skin
19	chr1:77394800-77395200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:77394800-77396600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:77395200-77395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:77395400-77399200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:77395400-77399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:77396200-77397000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:77396400-77397200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr1:77396600-77396800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
27	chr1:77396600-77397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr1:77396600-77397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr1:77396600-77397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:77396600-77397000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr1:77396600-77397000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr1:77396600-77397400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr1:77397000-77397800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:77397000-77398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:77397000-77398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:77397000-77399000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:77397000-77399200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:77397000-77399400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:77397200-77399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:77397400-77398600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:77397800-77398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:77397800-77398800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:77398000-77398200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:77398000-77398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:77398000-77399000	Enhancers	Ovary	ovary
46	chr1:77398000-77400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:77398200-77398400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:77398200-77400200	Enhancers	Fetal Heart	heart
49	chr1:77398400-77399400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:77398400-77400400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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