Variant report

Variant	nsv526419
Chromosome Location	chr5:164675241-164755174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDCD2-12	chr5:164702819-164703173	NONHSAT104954

Extended variants
information (count: 1804 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1804 , 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	rs138923987	chr5:164678802-164678803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12519113	chr5:164678939-164678940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12519127	chr5:164678946-164678947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561660363	chr5:164678961-164678962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370369752	chr5:164678974-164678975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200078774	chr5:164678991-164678992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532167291	chr5:164679002-164679003	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs543771478	chr5:164679025-164679026	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6556813	chr5:164679036-164679037	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141576008	chr5:164679050-164679051	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs375043586	chr5:164679056-164679057	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs544983070	chr5:164679098-164679099	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs187520561	chr5:164679153-164679154	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs527538388	chr5:164679183-164679184	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs532712041	chr5:164683016-164683017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541586765	chr5:164683025-164683026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559993416	chr5:164683042-164683043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs207466573	chr5:164683045-164683046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191565649	chr5:164683065-164683066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151006766	chr5:164683097-164683098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568955686	chr5:164683109-164683110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140739206	chr5:164683121-164683122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569664323	chr5:164683149-164683150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530547946	chr5:164683159-164683160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373792524	chr5:164683266-164683267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552171313	chr5:164683299-164683300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184381725	chr5:164683303-164683304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534631318	chr5:164683377-164683378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535787274	chr5:164683388-164683389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374746645	chr5:164683389-164683390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535322938	chr5:164684627-164684628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536814671	chr5:164684645-164684646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558890837	chr5:164684720-164684721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145297435	chr5:164684721-164684722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138985994	chr5:164684732-164684733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563890715	chr5:164684810-164684811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575251411	chr5:164684825-164684826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545587990	chr5:164684837-164684838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564097648	chr5:164684842-164684843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528105095	chr5:164684849-164684850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546476248	chr5:164684878-164684879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148977916	chr5:164684881-164684882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544017407	chr5:164684903-164684904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143836850	chr5:164684906-164684907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190342641	chr5:164684920-164684921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148160744	chr5:164684947-164684948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537545167	chr5:164684960-164684961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564364960	chr5:164684991-164684992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181140035	chr5:164685000-164685001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570801785	chr5:164685103-164685104	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164678800-164679200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:164679000-164679200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:164683000-164683400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:164684600-164688000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:164685200-164685800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:164685200-164685800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:164685200-164686000	Enhancers	Fetal Brain Female	brain
8	chr5:164685200-164686400	Enhancers	Fetal Lung	lung
9	chr5:164685200-164687000	Enhancers	Brain Germinal Matrix	brain
10	chr5:164685400-164685800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:164685400-164685800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:164685400-164685800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:164685400-164685800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:164685400-164685800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:164685400-164686000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:164685400-164686000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:164685400-164686000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:164685400-164686000	Enhancers	Ovary	ovary
19	chr5:164685400-164686200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:164685400-164686400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:164685400-164686400	Enhancers	Fetal Stomach	stomach
22	chr5:164685600-164686200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:164686400-164687600	Weak transcription	Fetal Lung	lung
24	chr5:164687000-164688400	Weak transcription	Brain Germinal Matrix	brain
25	chr5:164687800-164688000	Enhancers	Fetal Lung	lung
26	chr5:164688600-164688800	Enhancers	Brain Germinal Matrix	brain
27	chr5:164688800-164689000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:164690600-164691000	Enhancers	Fetal Kidney	kidney
29	chr5:164692000-164692200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:164696400-164697200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:164696400-164697200	Enhancers	Adipose Nuclei	Adipose
32	chr5:164709200-164709800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:164709200-164710000	Enhancers	Dnd41	blood
34	chr5:164709800-164711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:164711800-164712400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:164711800-164712400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:164712000-164712400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:164717000-164717400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:164718400-164718800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:164718800-164724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:164723200-164724800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:164724000-164724200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:164724000-164724200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:164724200-164724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:164724200-164725000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:164724200-164736000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:164725000-164725400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:164729200-164729400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:164729600-164731000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:164730400-164732400	Enhancers	Ovary	ovary

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