Variant report

Variant	nsv523526
Chromosome Location	chr1:76695356-76721164
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: 864 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533097	chr1:76695356-76695357	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568451978	chr1:76695369-76695370	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140975465	chr1:76695405-76695406	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537572398	chr1:76695412-76695413	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554496145	chr1:76695424-76695425	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572890382	chr1:76695449-76695450	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539993965	chr1:76695466-76695467	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564645934	chr1:76695538-76695539	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567904639	chr1:76695571-76695572	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543821876	chr1:76695600-76695601	Enhancers Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371270915	chr1:76695667-76695668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368739529	chr1:76695679-76695680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530354688	chr1:76695685-76695686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376333874	chr1:76695750-76695751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184255137	chr1:76695758-76695759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17098419	chr1:76695866-76695867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552658310	chr1:76695879-76695880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139298269	chr1:76695916-76695917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538205763	chr1:76695936-76695937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188828782	chr1:76695945-76695946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569109220	chr1:76695953-76695954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570972574	chr1:76695961-76695962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536199151	chr1:76695978-76695979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539982844	chr1:76696024-76696025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554740318	chr1:76696029-76696030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572910474	chr1:76696042-76696043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533761407	chr1:76696067-76696068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191744696	chr1:76696080-76696081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183836935	chr1:76696160-76696161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189187969	chr1:76696166-76696167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370002434	chr1:76696215-76696216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575070255	chr1:76696300-76696301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180889960	chr1:76696370-76696371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187387309	chr1:76696392-76696393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527851355	chr1:76696492-76696493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552647640	chr1:76696493-76696494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374002005	chr1:76696534-76696535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564553773	chr1:76696536-76696537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34618803	chr1:76696544-76696545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78720562	chr1:76696556-76696557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2631785	chr1:76696650-76696651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74517812	chr1:76696680-76696681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58138109	chr1:76696748-76696749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529296026	chr1:76696865-76696866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6689490	chr1:76696870-76696871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557503159	chr1:76696991-76696992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199515530	chr1:76696992-76696993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72675934	chr1:76696995-76696996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563092736	chr1:76696996-76696997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144333243	chr1:76697016-76697017	Enhancers Weak transcription	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:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76692200-76696000	Enhancers	Fetal Thymus	thymus
2	chr1:76692400-76695600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:76692400-76698200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:76692600-76698000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:76692600-76698200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:76692600-76698400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:76692800-76695600	Enhancers	Primary T cells from cord blood	blood
8	chr1:76692800-76695600	Enhancers	Thymus	Thymus
9	chr1:76692800-76698000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:76693400-76695400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:76693400-76697000	Enhancers	Fetal Lung	lung
12	chr1:76693600-76695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:76693800-76698400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:76694000-76695600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:76694200-76695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:76694200-76700600	Weak transcription	Fetal Stomach	stomach
17	chr1:76694400-76695600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:76694400-76695600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:76694400-76695600	Enhancers	HUVEC	blood vessel
20	chr1:76694400-76695800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:76694600-76695600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:76694600-76695600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:76694600-76695600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:76694600-76695600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:76694600-76695600	Enhancers	Adipose Nuclei	Adipose
26	chr1:76694600-76695600	Enhancers	Left Ventricle	heart
27	chr1:76694600-76695600	Enhancers	Lung	lung
28	chr1:76694600-76695600	Enhancers	Spleen	Spleen
29	chr1:76694600-76695800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:76694600-76705000	Weak transcription	Primary B cells from cord blood	blood
31	chr1:76694800-76695600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:76694800-76695600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:76694800-76695600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:76694800-76695600	Enhancers	Brain Angular Gyrus	brain
35	chr1:76694800-76695600	Enhancers	Brain Anterior Caudate	brain
36	chr1:76694800-76695600	Enhancers	Brain Hippocampus Middle	brain
37	chr1:76694800-76695600	Enhancers	Brain Substantia Nigra	brain
38	chr1:76694800-76696000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:76694800-76696000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:76695000-76695600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:76695000-76695600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:76695000-76695600	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:76695000-76695600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:76695000-76695600	Enhancers	Gastric	stomach
45	chr1:76695000-76695800	Enhancers	Brain Germinal Matrix	brain
46	chr1:76695000-76696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:76695200-76695400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:76695200-76695400	Enhancers	Psoas Muscle	Psoas
49	chr1:76695200-76695600	Enhancers	Right Atrium	heart
50	chr1:76695200-76696600	Weak transcription	Primary B cells from peripheral blood	blood

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