Variant report

Variant	nsv1014200
Chromosome Location	chr1:73310043-73345847
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	chr1:73334829..73335332-chr6:31055423..31055929,2	K562	blood:
2	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:
3	chr1:73185954..73186525-chr1:73310681..73311355,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-4	chr1:73319837-73320112	NONHSAT003920
2	lnc-FPGT-4	chr1:73315920-73316050	XLOC_000255
3	lnc-FPGT-4	chr1:73315919-73316050	NONHSAT003920
4	lnc-NEGR1-1	chr1:73316433-73316483	ENSG00000225087
5	lnc-FPGT-4	chr1:73319838-73320112	XLOC_000255

No data

Extended variants
information (count: 266 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559311028	chr1:73310055-73310056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193046323	chr1:73310089-73310090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200034946	chr1:73310116-73310117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541601887	chr1:73310120-73310121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs940917	chr1:73310138-73310139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115439893	chr1:73310160-73310161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149565196	chr1:73310175-73310176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550617736	chr1:73310176-73310177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74089863	chr1:73310266-73310267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532893205	chr1:73310469-73310470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs940916	chr1:73310548-73310549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566190632	chr1:73310567-73310568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535228844	chr1:73310586-73310587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113000768	chr1:73310587-73310588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370385456	chr1:73310657-73310658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34383750	chr1:73310809-73310810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545286175	chr1:73310819-73310820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374356934	chr1:73310824-73310825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554716584	chr1:73310842-73310843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560471011	chr1:73310855-73310856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568233697	chr1:73310900-73310901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184481775	chr1:73310913-73310914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556970407	chr1:73310922-73310923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566600992	chr1:73310939-73310940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189193410	chr1:73310953-73310954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181278701	chr1:73311008-73311009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374612949	chr1:73311020-73311021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201031904	chr1:73311029-73311030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201996085	chr1:73311033-73311034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572912502	chr1:73311041-73311042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542011192	chr1:73311047-73311048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12404025	chr1:73311084-73311085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527460603	chr1:73311089-73311090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561739541	chr1:73311124-73311125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114451857	chr1:73311129-73311130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572816500	chr1:73311145-73311146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544214349	chr1:73311152-73311153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556614800	chr1:73311197-73311198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532839170	chr1:73311212-73311213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184319750	chr1:73311223-73311224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144365515	chr1:73311249-73311250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189296164	chr1:73311257-73311258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180876231	chr1:73311273-73311274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568199431	chr1:73311311-73311312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537176034	chr1:73311364-73311365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567344331	chr1:73311366-73311367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550557059	chr1:73311371-73311372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140193446	chr1:73311376-73311377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202005434	chr1:73311389-73311390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201892434	chr1:73311390-73311391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73304400-73312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:73304400-73312800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:73309800-73311400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:73310800-73314000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:73311000-73312800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:73311200-73313600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:73311200-73313800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:73311400-73311600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:73311400-73311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:73311400-73311800	Enhancers	Gastric	stomach
11	chr1:73311600-73311800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:73311600-73312000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:73311600-73312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:73311600-73313400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:73311600-73313400	Enhancers	Fetal Brain Female	brain
16	chr1:73311600-73314200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:73311800-73312400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:73311800-73312800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:73311800-73313400	Weak transcription	Gastric	stomach
20	chr1:73311800-73313800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:73312400-73312800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:73312400-73312800	Enhancers	Fetal Kidney	kidney
23	chr1:73312400-73313000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:73312400-73313400	Enhancers	Fetal Brain Male	brain
25	chr1:73312400-73313800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:73312400-73313800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:73312800-73313200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:73312800-73314400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:73313000-73313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:73313200-73313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:73313400-73313600	Enhancers	Gastric	stomach
32	chr1:73313400-73313800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:73313400-73314000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:73313600-73314000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:73313600-73317400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:73313800-73317400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:73314200-73315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:73314400-73317200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:73315600-73315800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:73317200-73317600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:73317400-73317600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr1:73317400-73317800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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