Variant report

Variant	nsv947186
Chromosome Location	chr1:76512447-76530843
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	chr1:76528266..76531083-chr1:76533694..76535257,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST6GALNAC3-1	chr1:76521198-76521376	NONHSAT004010
2	lnc-ST6GALNAC3-1	chr1:76521433-76521898	NONHSAT004011

Extended variants
information (count: 672 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:672 , 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	rs563682575	chr1:76512448-76512449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112396593	chr1:76512449-76512450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76447460	chr1:76512487-76512488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189757539	chr1:76512534-76512535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12039427	chr1:76512557-76512558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181246137	chr1:76512561-76512562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565767782	chr1:76512637-76512638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569890421	chr1:76512691-76512692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35442941	chr1:76512694-76512695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139553624	chr1:76512696-76512697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550912744	chr1:76512742-76512743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569329959	chr1:76512763-76512764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537312661	chr1:76512776-76512777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535049889	chr1:76512785-76512786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149380913	chr1:76512788-76512789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567891225	chr1:76512805-76512806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371795359	chr1:76512816-76512817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1251476	chr1:76512820-76512821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35821217	chr1:76512886-76512887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545521738	chr1:76512887-76512888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146319363	chr1:76512889-76512890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575726108	chr1:76512938-76512939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543078712	chr1:76512953-76512954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561997117	chr1:76513022-76513023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537586027	chr1:76513117-76513118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537346897	chr1:76513181-76513182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529221374	chr1:76513284-76513285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11162074	chr1:76513294-76513295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71244414	chr1:76513302-76513303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373086119	chr1:76513303-76513304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34430651	chr1:76513313-76513314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398038123	chr1:76513314-76513315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541213373	chr1:76513339-76513340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139516663	chr1:76513353-76513354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577807282	chr1:76513371-76513372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533014514	chr1:76513383-76513384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371627472	chr1:76513437-76513438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540430228	chr1:76513464-76513465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551074147	chr1:76513467-76513468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563075590	chr1:76513536-76513537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374116567	chr1:76513569-76513570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548614057	chr1:76513609-76513610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201855139	chr1:76513614-76513615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17098005	chr1:76513629-76513630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144199006	chr1:76513690-76513691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183903242	chr1:76513740-76513741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1013629	chr1:76513759-76513760	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs188380882	chr1:76513789-76513790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77300437	chr1:76513790-76513791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563300864	chr1:76513810-76513811	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76506400-76514000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:76506600-76514000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:76507600-76513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:76507800-76513800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:76507800-76514000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:76509800-76514000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:76513600-76515200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:76513600-76515400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:76513800-76514400	Enhancers	Fetal Lung	lung
10	chr1:76513800-76515400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:76513800-76515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:76513800-76515400	Enhancers	Fetal Brain Male	brain
13	chr1:76514000-76514200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:76514000-76514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:76514000-76514200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:76514000-76514200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:76514000-76514400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:76514000-76514400	Enhancers	Fetal Stomach	stomach
19	chr1:76514000-76514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:76514000-76515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:76514000-76515400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:76514000-76515400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:76514200-76514600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:76514200-76515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:76514200-76518600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:76514400-76514800	Weak transcription	Fetal Lung	lung
27	chr1:76514400-76517800	Weak transcription	Fetal Stomach	stomach
28	chr1:76514400-76518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:76514600-76515000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:76514600-76515400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:76514800-76515000	Enhancers	Fetal Lung	lung
32	chr1:76515000-76515200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:76515000-76515200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:76515000-76515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:76515000-76518600	Weak transcription	Fetal Lung	lung
36	chr1:76515200-76515400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:76515200-76518000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:76515200-76518200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:76515200-76518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:76515200-76519000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:76515400-76517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:76515400-76517200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:76515400-76517200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:76515400-76517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:76515400-76518000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:76515400-76518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:76515400-76518600	Weak transcription	Fetal Brain Male	brain
48	chr1:76517200-76517400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:76517200-76517600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:76517200-76518400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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