Variant report

Variant	esv2762496
Chromosome Location	chr5:9190954-9193629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAS2R1-19	chr5:9192197-9192415	NONHSAT100336

Extended variants
information (count: 133 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1806091	chr5:9190954-9190955	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77828768	chr5:9191022-9191023	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571446448	chr5:9191034-9191035	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180879266	chr5:9191101-9191102	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554188759	chr5:9191102-9191103	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559076402	chr5:9191123-9191124	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1806130	chr5:9191130-9191131	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536614290	chr5:9191139-9191140	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1806129	chr5:9191144-9191145	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576651575	chr5:9191154-9191155	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545664790	chr5:9191159-9191160	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549032185	chr5:9191174-9191175	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139845993	chr5:9191175-9191176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371066098	chr5:9191180-9191181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541131178	chr5:9191182-9191183	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3846576	chr5:9191223-9191224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185584927	chr5:9191225-9191226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549736483	chr5:9191274-9191275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531744335	chr5:9191289-9191290	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563480444	chr5:9191293-9191294	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535084870	chr5:9191302-9191303	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532263559	chr5:9191344-9191345	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553397299	chr5:9191349-9191350	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3797937	chr5:9191362-9191363	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571594040	chr5:9191371-9191372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3797938	chr5:9191373-9191374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4267841	chr5:9191499-9191500	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189396984	chr5:9191501-9191502	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547590934	chr5:9191520-9191521	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143189156	chr5:9191531-9191532	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536277935	chr5:9191539-9191540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74334904	chr5:9191554-9191555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs42352	chr5:9191574-9191575	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182000276	chr5:9191591-9191592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185782382	chr5:9191593-9191594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183152	chr5:9191627-9191628	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140413322	chr5:9191656-9191657	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183705	chr5:9191657-9191658	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150373484	chr5:9191667-9191668	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190686624	chr5:9191676-9191677	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs42195	chr5:9191681-9191682	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531932402	chr5:9191682-9191683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79107387	chr5:9191706-9191707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559187274	chr5:9191712-9191713	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17253070	chr5:9191736-9191737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571458456	chr5:9191745-9191746	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2067215	chr5:9191746-9191747	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397712752	chr5:9191748-9191749	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113801758	chr5:9191774-9191775	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs40699	chr5:9191811-9191812	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9145600-9235400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:9154000-9226200	Weak transcription	Fetal Intestine Large	intestine
3	chr5:9169800-9202800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:9171000-9192000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:9175400-9208400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:9175600-9227400	Weak transcription	Colonic Mucosa	Colon
7	chr5:9176400-9196400	Weak transcription	Ovary	ovary
8	chr5:9183400-9191400	Weak transcription	Brain Angular Gyrus	brain
9	chr5:9184000-9191400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:9184600-9194800	Weak transcription	Fetal Kidney	kidney
11	chr5:9185000-9194600	Weak transcription	Fetal Lung	lung
12	chr5:9185200-9191600	Weak transcription	Gastric	stomach
13	chr5:9185400-9264600	Weak transcription	Left Ventricle	heart
14	chr5:9188000-9191000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:9188000-9192400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:9188000-9194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:9188200-9196200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:9188600-9191000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:9189200-9191600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:9189200-9192600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:9189200-9194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:9189200-9194600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:9189200-9194600	Weak transcription	NH-A	brain
24	chr5:9189400-9191800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:9189400-9192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:9189400-9192200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:9189400-9192200	Weak transcription	Brain Substantia Nigra	brain
28	chr5:9189400-9193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:9189400-9194000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:9189400-9194000	Weak transcription	NHDF-Ad	bronchial
31	chr5:9189400-9194200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:9189400-9194400	Weak transcription	Osteobl	bone
33	chr5:9189400-9195000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:9189400-9196000	Weak transcription	Lung	lung
35	chr5:9189400-9197200	Weak transcription	Aorta	Aorta
36	chr5:9189400-9228200	Weak transcription	Right Ventricle	heart
37	chr5:9189800-9191600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:9189800-9194200	Weak transcription	NHLF	lung
39	chr5:9190000-9203400	Weak transcription	Fetal Heart	heart
40	chr5:9190200-9191800	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:9190400-9196200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:9190600-9192200	Weak transcription	Fetal Stomach	stomach
43	chr5:9190600-9228600	Weak transcription	Esophagus	oesophagus
44	chr5:9190800-9191000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:9190800-9191800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:9190800-9192200	Weak transcription	Pancreas	Pancrea
47	chr5:9190800-9192400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:9190800-9192400	Weak transcription	Liver	Liver
49	chr5:9190800-9195400	Weak transcription	Fetal Intestine Small	intestine
50	chr5:9190800-9196000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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