Variant report

Variant	nsv1013636
Chromosome Location	chr1:242701567-242718980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLD5-2	chr1:242717038-242717147	XLOC_001281
2	lnc-PLD5-2	chr1:242717724-242718022	XLOC_001281

Variant related genes	Relation type
DAB2IP	miRNA target sites
DACT1	miRNA target sites

Extended variants
information (count: 664 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11804678	chr1:242701567-242701568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59119384	chr1:242701613-242701614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552283132	chr1:242701651-242701652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185446516	chr1:242701665-242701666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531907242	chr1:242701671-242701672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563270525	chr1:242701673-242701674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190379165	chr1:242701679-242701680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138223045	chr1:242701681-242701682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534518645	chr1:242701737-242701738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182212330	chr1:242701769-242701770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112998086	chr1:242701775-242701776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143365611	chr1:242701789-242701790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556203645	chr1:242701803-242701804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576147422	chr1:242701808-242701809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575451702	chr1:242701814-242701815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542691408	chr1:242701850-242701851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544026108	chr1:242701860-242701861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs554756956	chr1:242701891-242701892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374282512	chr1:242701922-242701923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574584270	chr1:242701977-242701978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs148349074	chr1:242701994-242701995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187217663	chr1:242702003-242702004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189713529	chr1:242702009-242702010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545831992	chr1:242702035-242702036	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562542745	chr1:242702047-242702048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116779814	chr1:242702060-242702061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368226650	chr1:242702061-242702062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143352237	chr1:242702062-242702063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147531438	chr1:242702096-242702097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140163883	chr1:242702103-242702104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527907317	chr1:242702109-242702110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548053418	chr1:242702131-242702132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560954164	chr1:242702145-242702146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143434343	chr1:242702146-242702147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539417641	chr1:242702166-242702167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528263425	chr1:242702167-242702168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150499210	chr1:242702175-242702176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569772477	chr1:242702237-242702238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139517847	chr1:242702242-242702243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555629688	chr1:242702243-242702244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149689930	chr1:242702296-242702297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543939628	chr1:242702298-242702299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs533784798	chr1:242702312-242702313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs58569431	chr1:242702314-242702315	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577232713	chr1:242702348-242702349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545769014	chr1:242702349-242702350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562590427	chr1:242702378-242702379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562477788	chr1:242702379-242702380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111892816	chr1:242702399-242702400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs546593897	chr1:242702422-242702423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242688800-242707000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:242700000-242705200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242700600-242701600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:242701600-242702400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:242706200-242706400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:242706200-242706400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:242706600-242707600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:242707400-242708000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:242707600-242708000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:242707600-242708000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:242707600-242708000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:242707600-242708000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:242709600-242710800	Enhancers	HMEC	breast
14	chr1:242709800-242710800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:242710000-242710400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:242710000-242711000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:242710400-242710600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:242711000-242718000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:242717400-242718200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:242717800-242718600	Enhancers	HMEC	breast
21	chr1:242718000-242718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:242718400-242719600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:242718600-242719600	Weak transcription	HMEC	breast

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