Variant report

Variant	nsv1001452
Chromosome Location	chr1:76692057-76724652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76655272..76656892-chr1:76697191..76699562,2	K562	blood:

Extended variants
information (count: 1091 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531773	chr1:76692057-76692058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189316160	chr1:76692172-76692173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560601870	chr1:76692180-76692181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145688308	chr1:76692190-76692191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145217703	chr1:76692199-76692200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182162762	chr1:76692220-76692221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72675929	chr1:76692267-76692268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149134695	chr1:76692268-76692269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35440524	chr1:76692338-76692339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548997896	chr1:76692356-76692357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs483441	chr1:76692421-76692422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532330561	chr1:76692442-76692443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553280942	chr1:76692455-76692456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34032441	chr1:76692461-76692462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578092070	chr1:76692475-76692476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552417357	chr1:76692476-76692477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs482598	chr1:76692491-76692492	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557007287	chr1:76692494-76692495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527974	chr1:76692495-76692496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542594392	chr1:76692498-76692499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555106046	chr1:76692521-76692522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571848116	chr1:76692541-76692542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187201147	chr1:76692552-76692553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115249105	chr1:76692617-76692618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559392851	chr1:76692628-76692629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536780324	chr1:76692645-76692646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143408909	chr1:76692658-76692659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3011990	chr1:76692701-76692702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148383007	chr1:76692796-76692797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570420849	chr1:76692799-76692800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs479650	chr1:76692832-76692833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs503329	chr1:76692881-76692882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191778159	chr1:76692901-76692902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567296671	chr1:76692987-76692988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528083159	chr1:76693049-76693050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547225046	chr1:76693050-76693051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183016397	chr1:76693097-76693098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555398182	chr1:76693114-76693115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs501401	chr1:76693115-76693116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72675931	chr1:76693248-76693249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143281865	chr1:76693274-76693275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147090624	chr1:76693325-76693326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10493588	chr1:76693367-76693368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554775973	chr1:76693382-76693383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573146325	chr1:76693424-76693425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540292590	chr1:76693428-76693429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553200561	chr1:76693543-76693544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578024491	chr1:76693548-76693549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185842061	chr1:76693579-76693580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35398262	chr1:76693632-76693633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76686800-76692200	Weak transcription	Fetal Thymus	thymus
2	chr1:76687400-76695000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76689000-76693800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:76689800-76692400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:76690000-76694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:76690600-76692400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:76690800-76692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:76692000-76694400	Weak transcription	HUVEC	blood vessel
9	chr1:76692200-76693000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:76692200-76693000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:76692200-76693800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:76692200-76696000	Enhancers	Fetal Thymus	thymus
13	chr1:76692400-76693000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:76692400-76695600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:76692400-76698200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:76692600-76693000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:76692600-76698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:76692600-76698200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:76692600-76698400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:76692800-76693400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:76692800-76694600	Enhancers	Fetal Heart	heart
22	chr1:76692800-76695600	Enhancers	Primary T cells from cord blood	blood
23	chr1:76692800-76695600	Enhancers	Thymus	Thymus
24	chr1:76692800-76698000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:76693000-76694600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:76693000-76694600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:76693000-76694800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:76693000-76695000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:76693400-76693600	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:76693400-76693800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:76693400-76694400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:76693400-76694600	Enhancers	Primary B cells from cord blood	blood
33	chr1:76693400-76695200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:76693400-76695400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:76693400-76697000	Enhancers	Fetal Lung	lung
36	chr1:76693600-76694200	Enhancers	Adipose Nuclei	Adipose
37	chr1:76693600-76694200	Enhancers	Fetal Stomach	stomach
38	chr1:76693600-76694600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:76693600-76695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:76693800-76694200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:76693800-76698400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:76694000-76695000	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:76694000-76695600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:76694200-76694600	Weak transcription	Adipose Nuclei	Adipose
45	chr1:76694200-76695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:76694200-76700600	Weak transcription	Fetal Stomach	stomach
47	chr1:76694400-76694800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:76694400-76695200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:76694400-76695600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:76694400-76695600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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