Variant report

Variant	nsv909572
Chromosome Location	chr18:39938510-40064000
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:1)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:75242752..75243655-chr18:39988964..39989484,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-5	chr18:39978195-39978242	ENSG00000267586.2
2	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
3	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
4	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
5	lnc-PIK3C3-5	chr18:40034872-40034954	NONHSAT059068
6	lnc-PIK3C3-5	chr18:40033897-40034063	NONHSAT059068
7	lnc-PIK3C3-6	chr18:39940745-39941040	NONHSAT059073
8	lnc-PIK3C3-5	chr18:40033897-40034063	NONHSAT059064
9	lnc-PIK3C3-5	chr18:40034872-40034954	NONHSAT059064
10	lnc-PIK3C3-5	chr18:40041800-40042148	ENSG00000267586.2
11	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
12	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
13	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
14	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
15	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
16	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
17	lnc-PIK3C3-5	chr18:40013015-40013340	ENSG00000267586.2
18	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
19	lnc-PIK3C3-7	chr18:39944965-39945296	NONHSAT059074
20	lnc-PIK3C3-5	chr18:40041800-40042148	NONHSAT059065
21	lnc-PIK3C3-5	chr18:40033897-40034063	NONHSAT059065
22	lnc-PIK3C3-5	chr18:40034872-40034954	ENSG00000267586.2
23	lnc-PIK3C3-7	chr18:39945383-39945641	NONHSAT059074
24	lnc-PIK3C3-5	chr18:40033897-40034063	ENSG00000267586.2
25	lnc-PIK3C3-5	chr18:40037228-40039640	ENSG00000267586.2
26	lnc-PIK3C3-5	chr18:39975992-39976233	ENSG00000267586.2
27	lnc-PIK3C3-5	chr18:40034872-40034954	NONHSAT059065

No data

Extended variants
information (count: 2602 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2602 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111840413	chr18:39940796-39940797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs185112494	chr18:39940811-39940812	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs543860867	chr18:39940819-39940820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560783900	chr18:39940827-39940828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115325559	chr18:39940836-39940837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs189621713	chr18:39940844-39940845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114660725	chr18:39940891-39940892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs76668344	chr18:39940904-39940905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs60392901	chr18:39940910-39940911	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs386802693	chr18:39940956-39940957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs61067214	chr18:39940958-39940959	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs346452	chr18:39940966-39940967	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	disease
13	rs570024967	chr18:39941072-39941073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59573036	chr18:39941130-39941131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537521973	chr18:39941138-39941139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs346451	chr18:39941160-39941161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571458687	chr18:39941163-39941164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142051247	chr18:39941211-39941212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151175990	chr18:39941212-39941213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73951505	chr18:39941216-39941217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535842649	chr18:39941228-39941229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551677769	chr18:39941229-39941230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192506538	chr18:39941281-39941282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575763572	chr18:39941311-39941312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543101619	chr18:39941332-39941333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565184851	chr18:39941351-39941352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576976405	chr18:39941364-39941365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113121052	chr18:39941382-39941383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570379176	chr18:39941385-39941386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541718804	chr18:39941390-39941391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374466109	chr18:39941393-39941394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56773123	chr18:39941395-39941396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539071675	chr18:39941408-39941409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184727868	chr18:39941409-39941410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368568136	chr18:39941413-39941414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188321092	chr18:39941414-39941415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180735837	chr18:39941425-39941426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569143186	chr18:39941426-39941427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59046070	chr18:39941445-39941446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569644536	chr18:39941453-39941454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552703385	chr18:39941457-39941458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61641935	chr18:39941516-39941517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538415870	chr18:39941532-39941533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149835310	chr18:39941539-39941540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186644737	chr18:39941547-39941548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59980203	chr18:39941549-39941550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554306242	chr18:39941552-39941553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569303764	chr18:39941615-39941616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536752596	chr18:39941642-39941643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549373520	chr18:39941699-39941700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39941000-39941200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:39941200-39946200	Enhancers	Fetal Brain Male	brain
3	chr18:39941400-39945400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:39942800-39943400	Enhancers	Fetal Brain Female	brain
5	chr18:39943400-39944400	Enhancers	HepG2	liver
6	chr18:39943400-39945400	Weak transcription	Fetal Brain Female	brain
7	chr18:39943600-39944200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:39944200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:39944800-39946200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr18:39945400-39945600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr18:39945400-39945800	Enhancers	Fetal Brain Female	brain
12	chr18:39945400-39946000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:39945400-39946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:39945600-39945800	ZNF genes & repeats	Gastric	stomach
15	chr18:39945600-39946000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:39945600-39953600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:39949200-39949800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:39949400-39950200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:39953600-39954000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr18:39958800-39959200	Enhancers	Liver	Liver
21	chr18:39958800-39959600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:39959600-39963600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:39961800-39964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:39963600-39965200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:39972000-39972800	Enhancers	Ovary	ovary
26	chr18:39972200-39973200	Enhancers	Rectal Smooth Muscle	rectum
27	chr18:39974000-39975000	Enhancers	Brain Substantia Nigra	brain
28	chr18:39974400-39975000	Enhancers	Brain Hippocampus Middle	brain
29	chr18:39974600-39975400	Enhancers	Fetal Kidney	kidney
30	chr18:39980200-39980400	ZNF genes & repeats	Aorta	Aorta
31	chr18:39988400-39989600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:39988800-39989400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:39989000-39989400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:39989000-39989400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:39989400-39993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:39989400-39993600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:39989400-39993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:39992400-39993000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:39992400-39995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:39992400-39996000	Enhancers	NH-A	brain
41	chr18:39992600-39993200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr18:39992600-39993400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:39992600-39994400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:39992800-39994800	Enhancers	HSMMtube	muscle
45	chr18:39992800-39995600	Enhancers	HSMM	muscle
46	chr18:39993000-39993400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:39993000-39993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:39993000-39994600	Enhancers	Adipose Nuclei	Adipose
49	chr18:39993000-39996000	Enhancers	Osteobl	bone
50	chr18:39993000-39996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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