Variant report

Variant	esv994899
Chromosome Location	chr5:9116741-9124959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:9124544..9126489-chr5:9143792..9145664,2	MCF-7	breast:
2	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
3	chr5:9115551..9117946-chr5:9119149..9122126,2	K562	blood:
4	chr5:9103532..9106142-chr5:9119093..9121647,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCT5-30	chr5:9121791-9122074	NONHSAT100326

Extended variants
information (count: 352 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78468423	chr5:9116824-9116825	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs253649	chr5:9116829-9116830	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527267136	chr5:9116849-9116850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547291143	chr5:9116905-9116906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567181123	chr5:9116950-9116951	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192798911	chr5:9116951-9116952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536955193	chr5:9116985-9116986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549559036	chr5:9116989-9116990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147754297	chr5:9117073-9117074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537936836	chr5:9117092-9117093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557406248	chr5:9117113-9117114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558196489	chr5:9117129-9117130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114775742	chr5:9117164-9117165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572617686	chr5:9117168-9117169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141044650	chr5:9117226-9117227	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539972015	chr5:9117251-9117252	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554546896	chr5:9117271-9117272	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111822474	chr5:9117300-9117301	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543271743	chr5:9117313-9117314	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556467737	chr5:9117334-9117335	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111509106	chr5:9117335-9117336	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576548390	chr5:9117361-9117362	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544799634	chr5:9117378-9117379	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548533822	chr5:9117380-9117381	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527298598	chr5:9117442-9117443	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540612034	chr5:9117447-9117448	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573625299	chr5:9117466-9117467	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560892498	chr5:9117469-9117470	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529915764	chr5:9117535-9117536	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544820478	chr5:9117563-9117564	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146855932	chr5:9117570-9117571	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557187513	chr5:9117577-9117578	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569766796	chr5:9117586-9117587	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532304302	chr5:9117613-9117614	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147932489	chr5:9117643-9117644	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75466769	chr5:9117720-9117721	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532936447	chr5:9117721-9117722	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551622580	chr5:9117722-9117723	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370523963	chr5:9117736-9117737	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560423547	chr5:9117739-9117740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35313014	chr5:9117753-9117754	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367626551	chr5:9117807-9117808	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373451023	chr5:9117816-9117817	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373606188	chr5:9117818-9117819	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367707710	chr5:9117852-9117853	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57328841	chr5:9117878-9117879	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185405679	chr5:9117922-9117923	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190656968	chr5:9117942-9117943	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57835254	chr5:9117970-9117971	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556790937	chr5:9118033-9118034	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
2	chr5:9105000-9119000	Weak transcription	Spleen	Spleen
3	chr5:9105200-9120400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:9105200-9145000	Weak transcription	Osteobl	bone
5	chr5:9105400-9118600	Weak transcription	Fetal Stomach	stomach
6	chr5:9108000-9123200	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:9108400-9118800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:9108400-9135800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:9108600-9118600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:9108600-9118600	Weak transcription	Right Ventricle	heart
11	chr5:9108600-9119000	Weak transcription	Fetal Intestine Large	intestine
12	chr5:9108600-9131800	Weak transcription	NHLF	lung
13	chr5:9108800-9147600	Weak transcription	NHDF-Ad	bronchial
14	chr5:9111000-9118400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:9112600-9117200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:9112800-9119400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:9112800-9126800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:9113200-9118800	Weak transcription	Esophagus	oesophagus
19	chr5:9113600-9118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:9114000-9119200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:9114600-9117400	Strong transcription	Liver	Liver
22	chr5:9114800-9119200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:9115000-9117600	Strong transcription	Fetal Heart	heart
24	chr5:9115000-9123200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:9115200-9119400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:9115600-9119400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:9115800-9118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:9116000-9117200	Weak transcription	Left Ventricle	heart
29	chr5:9116000-9117200	Weak transcription	Dnd41	blood
30	chr5:9116000-9117600	Strong transcription	Fetal Lung	lung
31	chr5:9116000-9118800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:9116000-9144600	Weak transcription	Fetal Kidney	kidney
33	chr5:9116200-9119600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:9116200-9124000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:9116200-9124000	Weak transcription	Pancreas	Pancrea
36	chr5:9116400-9118600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:9116400-9118600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:9116400-9118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:9116400-9118600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:9116400-9118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:9116400-9118600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:9116400-9118600	Weak transcription	Aorta	Aorta
43	chr5:9116400-9118600	Weak transcription	Fetal Intestine Small	intestine
44	chr5:9116400-9118600	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:9116400-9121200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:9116600-9118600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:9116600-9118600	Weak transcription	Ovary	ovary
48	chr5:9117200-9117600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:9117200-9118000	Strong transcription	Left Ventricle	heart
50	chr5:9117200-9118000	Enhancers	Dnd41	blood

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