Variant report

Variant	nsv1477
Chromosome Location	chr1:76515963-76534339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76532586..76534644-chr1:76541569..76543185,2	K562	blood:
2	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:
3	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST6GALNAC3-1	chr1:76531723-76531913	ENSG00000230027
2	lnc-ST6GALNAC3-1	chr1:76531723-76531979	NONHSAT004009
3	lnc-ST6GALNAC3-1	chr1:76531723-76531979	NONHSAT004011
4	lnc-ST6GALNAC3-1	chr1:76521198-76521376	NONHSAT004010
5	lnc-ST6GALNAC3-1	chr1:76521433-76521898	NONHSAT004011

No data

Extended variants
information (count: 651 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560739323	chr1:76515979-76515980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188967500	chr1:76516001-76516002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193245229	chr1:76516042-76516043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564274866	chr1:76516049-76516050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573964991	chr1:76516116-76516117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531576028	chr1:76516124-76516125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549810958	chr1:76516140-76516141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569048626	chr1:76516146-76516147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536558983	chr1:76516344-76516345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1251497	chr1:76516396-76516397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566683930	chr1:76516413-76516414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533621190	chr1:76516428-76516429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556591723	chr1:76516472-76516473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577056903	chr1:76516503-76516504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377544254	chr1:76516516-76516517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537828930	chr1:76516529-76516530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377486763	chr1:76516537-76516538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576455060	chr1:76516589-76516590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371133493	chr1:76516597-76516598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574984516	chr1:76516686-76516687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148248666	chr1:76516688-76516689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560446243	chr1:76516690-76516691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572585446	chr1:76516692-76516693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546016629	chr1:76516696-76516697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564238146	chr1:76516704-76516705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141693339	chr1:76516720-76516721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545396947	chr1:76516727-76516728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565202805	chr1:76516742-76516743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562119257	chr1:76516759-76516760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572526388	chr1:76516781-76516782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541246542	chr1:76516790-76516791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566677724	chr1:76516805-76516806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533970765	chr1:76516811-76516812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552440412	chr1:76516820-76516821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570520152	chr1:76516830-76516831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537941405	chr1:76516907-76516908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561182063	chr1:76516947-76516948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555857447	chr1:76516958-76516959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574388967	chr1:76516959-76516960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184068994	chr1:76516972-76516973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185313926	chr1:76516987-76516988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146345366	chr1:76516992-76516993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572697523	chr1:76517059-76517060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545979751	chr1:76517063-76517064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188580078	chr1:76517065-76517066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113389514	chr1:76517084-76517085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531173442	chr1:76517112-76517113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1251496	chr1:76517127-76517128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571231146	chr1:76517142-76517143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542376252	chr1:76517155-76517156	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:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76514200-76518600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:76514400-76517800	Weak transcription	Fetal Stomach	stomach
3	chr1:76514400-76518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76515000-76518600	Weak transcription	Fetal Lung	lung
5	chr1:76515200-76518000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:76515200-76518200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:76515200-76518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:76515200-76519000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:76515400-76517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:76515400-76517200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:76515400-76517200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:76515400-76517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:76515400-76518000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:76515400-76518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:76515400-76518600	Weak transcription	Fetal Brain Male	brain
16	chr1:76517200-76517400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:76517200-76517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:76517200-76518400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:76517200-76519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:76517400-76517800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:76517600-76521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:76517800-76519200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:76517800-76519400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:76517800-76520000	Enhancers	Fetal Stomach	stomach
25	chr1:76518000-76519000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:76518000-76519400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:76518000-76519400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:76518000-76520200	Enhancers	Colon Smooth Muscle	Colon
29	chr1:76518200-76518800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:76518200-76519400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:76518200-76519600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:76518400-76518800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:76518400-76519200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:76518400-76519600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:76518400-76520600	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:76518600-76518800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:76518600-76518800	Enhancers	Brain Hippocampus Middle	brain
38	chr1:76518600-76519000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:76518600-76519200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:76518600-76519200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:76518600-76519200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:76518600-76519200	Enhancers	Brain Substantia Nigra	brain
43	chr1:76518600-76519200	Enhancers	Fetal Brain Male	brain
44	chr1:76518600-76519200	Enhancers	Fetal Lung	lung
45	chr1:76518600-76519200	Enhancers	Stomach Smooth Muscle	stomach
46	chr1:76518600-76519400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:76518600-76519400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:76518600-76520000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:76518800-76519200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:76518800-76519200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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