Variant report

Variant	nsv470718
Chromosome Location	chr1:76948044-77019597
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	chr1:76871350..76874295-chr1:76994896..76997570,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGK-4	chr1:77017263-77017540	NONHSAT004013
2	lnc-PIGK-4	chr1:76996397-76996441	NONHSAT004013
3	lnc-PIGK-4	chr1:76996553-76996677	NONHSAT004013

Extended variants
information (count: 2298 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2298 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7536778	chr1:76948044-76948045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74089961	chr1:76948092-76948093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142382177	chr1:76948120-76948121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545335601	chr1:76948181-76948182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554880945	chr1:76948208-76948209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369751474	chr1:76948237-76948238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540824728	chr1:76948238-76948239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184515703	chr1:76948314-76948315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75940477	chr1:76948399-76948400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544751051	chr1:76948409-76948410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562949410	chr1:76948433-76948434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374819609	chr1:76948555-76948556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527686717	chr1:76948566-76948567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548593325	chr1:76948567-76948568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373624812	chr1:76948584-76948585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567561204	chr1:76948650-76948651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528330161	chr1:76948678-76948679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546797763	chr1:76948680-76948681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189366997	chr1:76948700-76948701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182253314	chr1:76948736-76948737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150968610	chr1:76948750-76948751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111783844	chr1:76948765-76948766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568599747	chr1:76948803-76948804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373368324	chr1:76948809-76948810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535851469	chr1:76948823-76948824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377534466	chr1:76948844-76948845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113802650	chr1:76948897-76948898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573503205	chr1:76948912-76948913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540535144	chr1:76948915-76948916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187460466	chr1:76948947-76948948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370790961	chr1:76948978-76948979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559186815	chr1:76948980-76948981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577395615	chr1:76948985-76948986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189214738	chr1:76948988-76948989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181557270	chr1:76948992-76948993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149674458	chr1:76948999-76949000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375535277	chr1:76949015-76949016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530178598	chr1:76949139-76949140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542249990	chr1:76949163-76949164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377342718	chr1:76949200-76949201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560260944	chr1:76949269-76949270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557219471	chr1:76949337-76949338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573934887	chr1:76949340-76949341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185700436	chr1:76949368-76949369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190254274	chr1:76949371-76949372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571513059	chr1:76949437-76949438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530259567	chr1:76949476-76949477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183255146	chr1:76949480-76949481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550319161	chr1:76949490-76949491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186075819	chr1:76949586-76949587	Weak 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
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76946600-76948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:76948000-76960400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:76950400-76950600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:76950600-76960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76955800-76956000	Enhancers	Aorta	Aorta
6	chr1:76956000-76960200	Weak transcription	Aorta	Aorta
7	chr1:76957800-76968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:76958400-76959400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:76959400-76959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:76959400-76960400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:76959600-76960000	Enhancers	Primary T cells from cord blood	blood
12	chr1:76959600-76960600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:76959600-76961200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:76959800-76960800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:76959800-76960800	Enhancers	HUVEC	blood vessel
16	chr1:76960200-76960800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:76960200-76960800	Enhancers	Aorta	Aorta
18	chr1:76960200-76961000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:76960400-76960600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:76960400-76960800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:76960400-76960800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:76960400-76960800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:76960400-76961000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:76960400-76961000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:76960400-76961000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:76960400-76961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:76960400-76961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:76960400-76961000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:76960400-76961200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:76960400-76961200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:76960600-76961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:76960600-76961000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:76960800-76963400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:76960800-76966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:76960800-76966200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:76960800-76966400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:76960800-76969000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:76961000-76962000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:76961000-76963400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:76961000-76964800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:76961000-76965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:76961000-76965000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:76961000-76966000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:76961000-76966200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:76961000-76966800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:76961000-76967000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:76961200-76966000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:76961200-76966400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:76962000-76963000	Enhancers	Brain Substantia Nigra	brain
50	chr1:76962000-76963200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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