Variant report

Variant	nsv947263
Chromosome Location	chr1:61762296-61765815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61759273..61761992-chr1:61764171..61766892,3	MCF-7	breast:
2	chr1:61755399..61757717-chr1:61760353..61762667,2	K562	blood:
3	chr1:61763708..61766352-chr1:61769813..61772116,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INADL-6	chr1:61760224-61764056	NONHSAT003604

Extended variants
information (count: 128 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554046098	chr1:61762314-61762315	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs572618675	chr1:61762344-61762345	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1414265	chr1:61762362-61762363	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576556510	chr1:61762364-61762365	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs145821225	chr1:61762377-61762378	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs148947072	chr1:61762441-61762442	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs543875584	chr1:61762493-61762494	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189910465	chr1:61762532-61762533	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs532678847	chr1:61762562-61762563	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532673646	chr1:61762582-61762583	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541535100	chr1:61762611-61762612	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs540577200	chr1:61762644-61762645	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527490700	chr1:61762675-61762676	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs181182088	chr1:61762710-61762711	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543648697	chr1:61762712-61762713	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs186210398	chr1:61762738-61762739	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs78001034	chr1:61762813-61762814	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs189018520	chr1:61763005-61763006	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538314335	chr1:61763070-61763071	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547481161	chr1:61763079-61763080	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs58580164	chr1:61763106-61763107	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs151025310	chr1:61763112-61763113	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs75404365	chr1:61763206-61763207	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs141206844	chr1:61763233-61763234	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576840598	chr1:61763238-61763239	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs537417356	chr1:61763256-61763257	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs558962384	chr1:61763325-61763326	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs540062892	chr1:61763379-61763380	Enhancers Weak transcription Flanking Active TSS Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs145027306	chr1:61763400-61763401	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs138748186	chr1:61763433-61763434	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572144054	chr1:61763435-61763436	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs141891058	chr1:61763444-61763445	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs182061417	chr1:61763446-61763447	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs561736246	chr1:61763487-61763488	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531475112	chr1:61763494-61763495	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs549681487	chr1:61763501-61763502	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs564501624	chr1:61763512-61763513	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186438900	chr1:61763533-61763534	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547176003	chr1:61763569-61763570	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs565810936	chr1:61763573-61763574	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs556762875	chr1:61763601-61763602	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs75369127	chr1:61763626-61763627	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs374550714	chr1:61763636-61763637	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs569679788	chr1:61763644-61763645	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138046410	chr1:61763704-61763705	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537703454	chr1:61763712-61763713	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191813540	chr1:61763730-61763731	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs577261559	chr1:61763739-61763740	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs180957667	chr1:61763741-61763742	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185835478	chr1:61763759-61763760	Enhancers Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61748800-61763200	Weak transcription	Liver	Liver
3	chr1:61751400-61767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:61751800-61762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:61753800-61764600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:61753800-61765200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:61754800-61763000	Weak transcription	Pancreas	Pancrea
8	chr1:61755600-61764800	Weak transcription	K562	blood
9	chr1:61755600-61784000	Weak transcription	Esophagus	oesophagus
10	chr1:61756000-61768400	Enhancers	HepG2	liver
11	chr1:61756800-61762600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:61758400-61763800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:61759200-61764600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:61759200-61765000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:61759200-61766800	Weak transcription	Right Ventricle	heart
16	chr1:61759200-61767400	Weak transcription	Right Atrium	heart
17	chr1:61759600-61767000	Weak transcription	Fetal Heart	heart
18	chr1:61759600-61767600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:61759600-61775800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:61759800-61763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:61760200-61762600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:61760200-61763600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:61760200-61764800	Weak transcription	Fetal Lung	lung
24	chr1:61760200-61766800	Weak transcription	NHEK	skin
25	chr1:61760400-61762600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:61760400-61763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:61760400-61763400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:61760400-61763800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:61760400-61764800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:61760600-61763400	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:61760800-61763200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:61760800-61763800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:61760800-61764600	Weak transcription	A549	lung
34	chr1:61760800-61766800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:61760800-61767600	Weak transcription	HMEC	breast
36	chr1:61760800-61780800	Weak transcription	Fetal Brain Male	brain
37	chr1:61760800-61783800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:61761000-61764800	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:61761000-61765400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:61761400-61762400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:61761400-61763600	Weak transcription	Aorta	Aorta
42	chr1:61761400-61767400	Weak transcription	Left Ventricle	heart
43	chr1:61761600-61762400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:61761600-61763200	Enhancers	Brain Anterior Caudate	brain
45	chr1:61761800-61762600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:61761800-61763000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:61761800-61763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:61761800-61767400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:61761800-61767400	Weak transcription	Gastric	stomach
50	chr1:61761800-61767400	Weak transcription	Psoas Muscle	Psoas

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