Variant report

Variant	nsv945881
Chromosome Location	chr1:73446047-73452705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-10	chr1:73448072-73448212	FPKM1_group_852_transcript_3
2	lnc-FPGT-10	chr1:73447761-73447828	NONHSAT003925
3	lnc-FPGT-10	chr1:73447761-73447828	FPKM1_group_852_transcript_3
4	lnc-FPGT-11	chr1:73448860-73448966	NONHSAT003922
5	lnc-FPGT-10	chr1:73450871-73451011	NONHSAT003925
6	lnc-FPGT-11	chr1:73448295-73448360	NONHSAT003922

Extended variants
information (count: 390 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373464771	chr1:73446083-73446084	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536537954	chr1:73446094-73446095	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4344272	chr1:73446101-73446102	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149639392	chr1:73446136-73446137	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539411268	chr1:73446137-73446138	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553324918	chr1:73446147-73446148	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573104463	chr1:73446172-73446173	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371217353	chr1:73446226-73446227	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542123847	chr1:73446233-73446234	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561898353	chr1:73446234-73446235	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575477759	chr1:73446243-73446244	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4233093	chr1:73446245-73446246	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563977064	chr1:73446254-73446255	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558590295	chr1:73446255-73446256	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56130954	chr1:73446281-73446282	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4233094	chr1:73446288-73446289	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182948835	chr1:73446293-73446294	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142167056	chr1:73446301-73446302	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528784804	chr1:73446322-73446323	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187153757	chr1:73446326-73446327	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191130238	chr1:73446332-73446333	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183297796	chr1:73446333-73446334	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551064857	chr1:73446346-73446347	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570898929	chr1:73446349-73446350	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376088958	chr1:73446354-73446355	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539921934	chr1:73446376-73446377	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553123751	chr1:73446399-73446400	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566856828	chr1:73446421-73446422	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535765396	chr1:73446422-73446423	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555673590	chr1:73446470-73446471	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575514363	chr1:73446516-73446517	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55693193	chr1:73446529-73446530	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557923568	chr1:73446584-73446585	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577710155	chr1:73446614-73446615	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs187448402	chr1:73446638-73446639	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs574715178	chr1:73446653-73446654	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs559923833	chr1:73446703-73446704	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs12724536	chr1:73446704-73446705	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542136729	chr1:73446711-73446712	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs561996237	chr1:73446721-73446722	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs367810368	chr1:73446754-73446755	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs111283556	chr1:73446776-73446777	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs12042865	chr1:73446790-73446791	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533299890	chr1:73446792-73446793	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs547037668	chr1:73446858-73446859	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs566895532	chr1:73446861-73446862	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs535802994	chr1:73446938-73446939	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs555707766	chr1:73446945-73446946	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs569214397	chr1:73446956-73446957	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs368522414	chr1:73446983-73446984	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73442200-73447600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:73443000-73451200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:73443000-73451800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:73444200-73447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:73445200-73446200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:73445200-73446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:73445600-73446200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:73446000-73446600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:73446000-73451200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:73446200-73447400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:73446200-73448600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:73446200-73448600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:73446600-73450400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
14	chr1:73447400-73447800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:73447400-73448000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
16	chr1:73447600-73447800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:73447800-73448000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:73447800-73448800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:73448000-73448600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:73448600-73449200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
21	chr1:73448600-73450800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:73448600-73451200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:73448600-73451200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:73448800-73449200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:73448800-73450400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:73449200-73451200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:73449200-73451400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:73449400-73450000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:73450000-73452600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:73450400-73451200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:73450800-73451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:73451000-73453600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:73451200-73451800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:73451200-73451800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:73451200-73452000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr1:73451200-73452200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:73451200-73453200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:73451200-73453400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:73451200-73453600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:73451400-73451800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:73451800-73452200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:73451800-73453400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:73451800-73453400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:73451800-73453800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:73452000-73453200	Enhancers	Fetal Heart	heart
46	chr1:73452200-73452800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:73452200-73453200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:73452200-73453400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:73452200-73453600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:73452400-73453000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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