Variant report

Variant	nsv980788
Chromosome Location	chr5:43034141-43034734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
2	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:
3	chr5:43015314..43020034-chr5:43032196..43035172,5	MCF-7	breast:
4	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF131-7	chr5:43033818-43034737	ENSG00000272382.1

Variant related genes	Relation type
ENSG00000251131	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000172262	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs585302	chr5:43034142-43034143	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531260781	chr5:43034171-43034172	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs549406601	chr5:43034191-43034192	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs561569910	chr5:43034202-43034203	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs528688134	chr5:43034228-43034229	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs547167125	chr5:43034236-43034237	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs10077219	chr5:43034289-43034290	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563530345	chr5:43034310-43034311	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs115949823	chr5:43034314-43034315	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs116337744	chr5:43034317-43034318	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs530045559	chr5:43034322-43034323	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs141731209	chr5:43034335-43034336	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs554580005	chr5:43034338-43034339	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs570742657	chr5:43034358-43034359	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs372561008	chr5:43034453-43034454	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs145593360	chr5:43034474-43034475	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs181484788	chr5:43034480-43034481	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs138105376	chr5:43034534-43034535	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs543878350	chr5:43034549-43034550	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs142777426	chr5:43034596-43034597	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs574340609	chr5:43034618-43034619	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs541767989	chr5:43034713-43034714	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs561425804	chr5:43034717-43034718	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs375654384	chr5:43034723-43034724	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs540863551	chr5:43034734-43034735	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020200-43034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:43020800-43034200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:43020800-43034400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:43020800-43037400	Weak transcription	HSMM	muscle
5	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
6	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:43021400-43034400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:43021600-43034200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:43021600-43034400	Weak transcription	NHDF-Ad	bronchial
10	chr5:43021600-43034600	Weak transcription	Hela-S3	cervix
11	chr5:43021800-43034400	Weak transcription	Dnd41	blood
12	chr5:43021800-43034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:43028400-43034400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:43029400-43034200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:43029400-43034200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:43029400-43034400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:43029400-43034400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:43029400-43034600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:43029600-43034400	Weak transcription	Primary T cells from cord blood	blood
22	chr5:43029800-43034600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:43029800-43034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:43030000-43034800	Weak transcription	GM12878-XiMat	blood
25	chr5:43030600-43034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:43031200-43034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:43031400-43034600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:43033400-43034200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:43033600-43035400	Flanking Active TSS	HUVEC	blood vessel
30	chr5:43033800-43034200	Enhancers	Placenta	Placenta
31	chr5:43033800-43034400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:43033800-43034400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:43033800-43034600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:43033800-43034600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr5:43033800-43034600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:43033800-43034600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr5:43033800-43034600	Active TSS	NHLF	lung
38	chr5:43033800-43035200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:43033800-43035200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:43033800-43035400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:43033800-43035400	Flanking Active TSS	NH-A	brain
42	chr5:43034000-43034200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:43034000-43034200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:43034000-43034200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:43034000-43034200	Flanking Active TSS	Esophagus	oesophagus
46	chr5:43034000-43034200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr5:43034000-43034200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr5:43034000-43034200	ZNF genes & repeats	Thymus	Thymus
49	chr5:43034000-43034400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:43034000-43034400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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