Variant report

Variant	nsv1001105
Chromosome Location	chr1:73262558-73319499
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:73185954..73186525-chr1:73310681..73311355,2	MCF-7	breast:
2	chr1:73243724..73245872-chr1:73288517..73290287,2	MCF-7	breast:
3	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:
4	chr1:73273811..73275334-chr3:100425817..100428133,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 1015 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537429302	chr1:73267262-73267263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181397403	chr1:73267290-73267291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200414237	chr1:73267293-73267294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185833016	chr1:73267306-73267307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545735218	chr1:73267333-73267334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570944409	chr1:73267350-73267351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542340639	chr1:73267429-73267430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371013241	chr1:73267515-73267516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553270078	chr1:73267576-73267577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572946460	chr1:73267582-73267583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375224087	chr1:73271221-73271222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573900130	chr1:73271235-73271236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542674097	chr1:73271254-73271255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371178036	chr1:73271276-73271277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142667181	chr1:73271334-73271335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576384044	chr1:73271392-73271393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113901021	chr1:73271398-73271399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545102796	chr1:73271404-73271405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565293418	chr1:73271432-73271433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183648737	chr1:73271449-73271450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547715207	chr1:73271460-73271461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561022390	chr1:73271496-73271497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529954531	chr1:73271540-73271541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549898272	chr1:73271585-73271586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375400273	chr1:73271595-73271596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569677789	chr1:73271606-73271607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12409871	chr1:73271607-73271608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188316241	chr1:73271630-73271631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370388594	chr1:73271661-73271662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565693116	chr1:73271670-73271671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150968221	chr1:73271678-73271679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13375561	chr1:73271709-73271710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528624673	chr1:73271713-73271714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139441408	chr1:73271750-73271751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144204715	chr1:73271791-73271792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556650342	chr1:73271794-73271795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568069546	chr1:73271849-73271850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147842688	chr1:73271891-73271892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141456184	chr1:73271937-73271938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545503646	chr1:73271947-73271948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545028261	chr1:73271990-73271991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556056819	chr1:73282612-73282613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144035438	chr1:73282627-73282628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1949888	chr1:73282691-73282692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147368045	chr1:73282702-73282703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138019029	chr1:73282712-73282713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190968800	chr1:73282729-73282730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553844864	chr1:73282738-73282739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565174	chr1:73282760-73282761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549815868	chr1:73282774-73282775	Enhancers	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	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73267200-73267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:73271200-73272000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:73282600-73283200	Enhancers	Ovary	ovary
4	chr1:73292800-73293200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:73292800-73293400	Enhancers	Hela-S3	cervix
6	chr1:73293200-73293600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:73295400-73296600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:73296000-73296600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:73296000-73296800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:73296000-73297000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:73296000-73297000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:73296200-73296800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:73296200-73296800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:73296200-73296800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:73296200-73297000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:73296200-73297000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:73296200-73297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:73296400-73296800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:73296400-73297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:73296600-73297000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:73296600-73297000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:73296800-73299800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:73297000-73302400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:73302400-73302800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr1:73303200-73304400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:73303400-73303800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:73303400-73304200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:73303400-73304200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:73303400-73304200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:73303400-73304400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:73303400-73304400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:73303800-73304400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:73304000-73304400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:73304000-73304400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:73304000-73304400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:73304400-73309600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:73304400-73312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:73304400-73312800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:73309600-73309800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:73309800-73311400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:73310800-73314000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:73311000-73312800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:73311200-73313600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:73311200-73313800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:73311400-73311600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:73311400-73311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:73311400-73311800	Enhancers	Gastric	stomach
48	chr1:73311600-73311800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:73311600-73312000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:73311600-73312400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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