Variant report

Variant	nsv546563
Chromosome Location	chr1:72956037-73041879
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:2)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:
2	chr1:72964126..72965885-chr1:72967402..72969838,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-3	chr1:72970822-72971029	NONHSAT003910
2	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912
3	lnc-NEGR1-4	chr1:73003139-73003208	l_72_chr1:72935741-72937450_testes
4	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
5	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
6	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
7	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
8	lnc-NEGR1-4	chr1:72987437-72987547	NONHSAT003911
9	lnc-NEGR1-4	chr1:72987192-72987299	NONHSAT003911
10	lnc-FPGT-12	chr1:73013542-73013815	NONHSAT003912
11	lnc-NEGR1-3	chr1:72972500-72972595	NONHSAT003910
12	lnc-NEGR1-4	chr1:72987437-72987547	l_72_chr1:72935741-72937450_testes
13	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
14	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
15	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
16	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912

No data

Extended variants
information (count: 1832 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs812462	chr1:72956037-72956038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545517134	chr1:72956038-72956039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12123420	chr1:72956068-72956069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147469176	chr1:72956075-72956076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs782205	chr1:72956078-72956079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532771405	chr1:72956100-72956101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376224494	chr1:72956121-72956122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567946232	chr1:72956136-72956137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373945695	chr1:72956164-72956165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530368659	chr1:72956177-72956178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550381250	chr1:72956250-72956251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61771794	chr1:72956259-72956260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs539105547	chr1:72956276-72956277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187751609	chr1:72956283-72956284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140168755	chr1:72956315-72956316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557236183	chr1:72956368-72956369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535018625	chr1:72956478-72956479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192322101	chr1:72956487-72956488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547704222	chr1:72956492-72956493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144133283	chr1:72956519-72956520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556712985	chr1:72956520-72956521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10889958	chr1:72956535-72956536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs545454606	chr1:72956552-72956553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559403809	chr1:72956560-72956561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570720814	chr1:72956564-72956565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144320214	chr1:72956628-72956629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561564340	chr1:72956653-72956654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184541441	chr1:72956710-72956711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189321795	chr1:72956755-72956756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563836814	chr1:72956773-72956774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112117175	chr1:72956810-72956811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4642836	chr1:72956848-72956849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533716390	chr1:72956854-72956855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552654303	chr1:72956889-72956890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61771795	chr1:72956912-72956913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs142539409	chr1:72956919-72956920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548545167	chr1:72956925-72956926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142312910	chr1:72956971-72956972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568386410	chr1:72956984-72956985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12081325	chr1:72957051-72957052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11586991	chr1:72957054-72957055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs150960603	chr1:72957064-72957065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114712290	chr1:72957065-72957066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192626422	chr1:72957071-72957072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144711143	chr1:72957143-72957144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572413928	chr1:72957152-72957153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5775130	chr1:72957154-72957155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541720335	chr1:72957163-72957164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78207722	chr1:72957166-72957167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561695967	chr1:72957187-72957188	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72954800-72956200	Enhancers	Fetal Lung	lung
2	chr1:72956200-72961600	Weak transcription	Fetal Lung	lung
3	chr1:72961200-72961600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:72961400-72962600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:72961600-72963000	Enhancers	Fetal Lung	lung
6	chr1:72962000-72962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:72962800-72963800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:72963000-72964200	Weak transcription	Fetal Lung	lung
9	chr1:72963800-72965200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:72964000-72964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:72964200-72965000	Enhancers	Fetal Heart	heart
12	chr1:72964200-72965000	Enhancers	Fetal Lung	lung
13	chr1:72965400-72966200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:72966000-72967400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:72974800-72975600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:72977000-72978400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:72977000-72978800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:72977400-72978400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:72977400-72978600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:72977400-72978800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:72977600-72978200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:72980800-72981000	Enhancers	Hela-S3	cervix
23	chr1:72981200-72981800	Weak transcription	Hela-S3	cervix
24	chr1:72981600-72982400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:72981800-72982000	Enhancers	Fetal Lung	lung
26	chr1:72981800-72982000	Enhancers	Hela-S3	cervix
27	chr1:72981800-72982200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:72982000-72982400	Flanking Active TSS	Fetal Lung	lung
29	chr1:72982000-72986800	Weak transcription	Hela-S3	cervix
30	chr1:72982200-72982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:72982400-72983000	Enhancers	Fetal Lung	lung
32	chr1:72982400-72984600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:72982600-72983000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:72983000-72985200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:72984600-72985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:72984600-72986000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:72985200-72985600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:72986800-72988000	Enhancers	Hela-S3	cervix
39	chr1:72987000-72987600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:72992200-72993200	Enhancers	NH-A	brain
41	chr1:72992800-72993200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:73011400-73014000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:73011800-73013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:73011800-73013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:73011800-73014000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:73012000-73012200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:73012000-73012400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:73012000-73012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:73012200-73028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:73012400-73012800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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