Variant report

Variant	nsv964980
Chromosome Location	chr5:177052123-177057222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM193B-3	chr5:177053437-177053469	NONHSAT105446

Extended variants
information (count: 188 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568083426	chr5:177052131-177052132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370061333	chr5:177052200-177052201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552850202	chr5:177052215-177052216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577647777	chr5:177052218-177052219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549406900	chr5:177052270-177052271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571046882	chr5:177052307-177052308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183372308	chr5:177052326-177052327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556766868	chr5:177052331-177052332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10036396	chr5:177052357-177052358	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs535393393	chr5:177052363-177052364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368794639	chr5:177052397-177052398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185890574	chr5:177052443-177052444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143078986	chr5:177052485-177052486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373245314	chr5:177052500-177052501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35089955	chr5:177052529-177052530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546867348	chr5:177052530-177052531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190008840	chr5:177052557-177052558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10040391	chr5:177052587-177052588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs575786563	chr5:177052620-177052621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557904594	chr5:177052645-177052646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543335996	chr5:177052673-177052674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561982905	chr5:177052813-177052814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529160671	chr5:177052823-177052824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138101679	chr5:177052854-177052855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142643433	chr5:177052857-177052858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571522450	chr5:177052917-177052918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527825778	chr5:177052921-177052922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552662249	chr5:177052946-177052947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571056946	chr5:177052947-177052948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183354547	chr5:177052967-177052968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539132014	chr5:177053024-177053025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550220489	chr5:177053107-177053108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532707505	chr5:177053113-177053114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10066755	chr5:177053147-177053148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553774086	chr5:177053170-177053171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565298594	chr5:177053276-177053277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539152393	chr5:177053327-177053328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5013573	chr5:177053334-177053335	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568935073	chr5:177053335-177053336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191998180	chr5:177053339-177053340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555249835	chr5:177053351-177053352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142759790	chr5:177053389-177053390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183503339	chr5:177053406-177053407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188152961	chr5:177053436-177053437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572421509	chr5:177053438-177053439	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs546339735	chr5:177053519-177053520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564535251	chr5:177053524-177053525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575947520	chr5:177053599-177053600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550398770	chr5:177053647-177053648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562136685	chr5:177053653-177053654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
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
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028600-177053200	Weak transcription	HSMM	muscle
2	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
3	chr5:177034800-177052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:177035000-177054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:177035200-177053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:177037000-177055200	Weak transcription	NHLF	lung
7	chr5:177038600-177054400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:177041600-177054400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:177043400-177052800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:177044400-177061800	Weak transcription	Small Intestine	intestine
11	chr5:177045000-177054200	Weak transcription	GM12878-XiMat	blood
12	chr5:177046000-177052600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:177046400-177055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:177046400-177058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:177046600-177053200	Weak transcription	HSMMtube	muscle
16	chr5:177046600-177054400	Weak transcription	Right Ventricle	heart
17	chr5:177046600-177055000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
21	chr5:177046800-177054000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:177046800-177054200	Weak transcription	Brain Anterior Caudate	brain
23	chr5:177046800-177054400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177046800-177058800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:177046800-177060200	Weak transcription	Brain Angular Gyrus	brain
26	chr5:177046800-177060800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:177046800-177065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:177047000-177052400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:177047000-177054200	Weak transcription	Fetal Brain Male	brain
31	chr5:177047000-177055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:177047000-177057200	Weak transcription	NHDF-Ad	bronchial
33	chr5:177047000-177058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:177047200-177054400	Weak transcription	Psoas Muscle	Psoas
36	chr5:177047200-177055200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:177047200-177055800	Weak transcription	Colonic Mucosa	Colon
38	chr5:177047200-177060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:177047200-177061000	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:177047200-177064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:177047200-177070800	Weak transcription	Pancreas	Pancrea
42	chr5:177047400-177054200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:177047400-177054600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:177047400-177055600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:177047400-177059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:177047400-177075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:177047800-177053200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:177047800-177055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:177047800-177057400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:177047800-177059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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