Variant report

Variant	nsv1006696
Chromosome Location	chr1:77391700-77430739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1334 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1718919	chr1:77391700-77391701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540521511	chr1:77391769-77391770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184134961	chr1:77391777-77391778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190685055	chr1:77391789-77391790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551760186	chr1:77391797-77391798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563598911	chr1:77391829-77391830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531058146	chr1:77391915-77391916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557522083	chr1:77391923-77391924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17099714	chr1:77391962-77391963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1522621	chr1:77392005-77392006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs534927691	chr1:77392013-77392014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59064097	chr1:77392038-77392039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542855234	chr1:77392054-77392055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546886505	chr1:77392060-77392061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571612184	chr1:77392115-77392116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563091763	chr1:77392160-77392161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12409502	chr1:77392191-77392192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs80343262	chr1:77392239-77392240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568787738	chr1:77392331-77392332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182019705	chr1:77392360-77392361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554745583	chr1:77392473-77392474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573068209	chr1:77392582-77392583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576366093	chr1:77392714-77392715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530403412	chr1:77392736-77392737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186011885	chr1:77392744-77392745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190470767	chr1:77392746-77392747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558848578	chr1:77392820-77392821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576190792	chr1:77392918-77392919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17099715	chr1:77393006-77393007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545047625	chr1:77393050-77393051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563681447	chr1:77393097-77393098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530847995	chr1:77393150-77393151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141362523	chr1:77393157-77393158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17099716	chr1:77393184-77393185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545279341	chr1:77393202-77393203	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17099717	chr1:77393289-77393290	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546800757	chr1:77393323-77393324	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571818311	chr1:77393377-77393378	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563764888	chr1:77393447-77393448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77504035	chr1:77393456-77393457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368506140	chr1:77393471-77393472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115794444	chr1:77393546-77393547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568826103	chr1:77393566-77393567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181360487	chr1:77393595-77393596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554655802	chr1:77393650-77393651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540948410	chr1:77393652-77393653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566578955	chr1:77393658-77393659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372719509	chr1:77393681-77393682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185486918	chr1:77393749-77393750	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144500081	chr1:77393769-77393770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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:354 , 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	chr1:77385200-77396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:77385800-77396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:77386800-77393600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:77393000-77393800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:77393200-77393400	Active TSS	Aorta	Aorta
7	chr1:77393400-77394800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:77393400-77429000	Weak transcription	Aorta	Aorta
9	chr1:77393600-77396600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:77393800-77395400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:77394000-77394400	Enhancers	NHEK	skin
12	chr1:77394000-77394800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:77394000-77394800	Enhancers	HMEC	breast
14	chr1:77394200-77394600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:77394400-77394800	Flanking Active TSS	NHEK	skin
16	chr1:77394600-77396600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:77394800-77395000	Enhancers	NHEK	skin
18	chr1:77394800-77395200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:77394800-77396600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:77395200-77395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:77395400-77399200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:77395400-77399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:77396200-77397000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:77396400-77397200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr1:77396600-77396800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr1:77396600-77397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr1:77396600-77397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr1:77396600-77397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:77396600-77397000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr1:77396600-77397000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chr1:77396600-77397400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr1:77397000-77397800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:77397000-77398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:77397000-77398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:77397000-77399000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:77397000-77399200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:77397000-77399400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:77397200-77399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:77397400-77398600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:77397800-77398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:77397800-77398800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:77398000-77398200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:77398000-77398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:77398000-77399000	Enhancers	Ovary	ovary
45	chr1:77398000-77400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:77398200-77398400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:77398200-77400200	Enhancers	Fetal Heart	heart
48	chr1:77398400-77399400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:77398400-77400400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:77398600-77399200	Enhancers	Pancreatic Islets	Pancreatic Islet

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