Variant report

Variant	esv3504233
Chromosome Location	chr1:159014078-159019176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563972678	chr1:159014092-159014093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2814769	chr1:159014109-159014110	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138274775	chr1:159014128-159014129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561425078	chr1:159014145-159014146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530253037	chr1:159014167-159014168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142854172	chr1:159014172-159014173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566835667	chr1:159014178-159014179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113596235	chr1:159014183-159014184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552834992	chr1:159014191-159014192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148714124	chr1:159014224-159014225	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538214682	chr1:159014226-159014227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556714214	chr1:159014237-159014238	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574951013	chr1:159014325-159014326	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200727958	chr1:159014337-159014338	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1856975	chr1:159014351-159014352	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1856974	chr1:159014354-159014355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377574200	chr1:159014366-159014367	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564391600	chr1:159014409-159014410	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555673700	chr1:159014437-159014438	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141435083	chr1:159014450-159014451	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543379936	chr1:159014464-159014465	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200697910	chr1:159014511-159014512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541254903	chr1:159014521-159014522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189980636	chr1:159014532-159014533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557659692	chr1:159014541-159014542	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528917615	chr1:159014548-159014549	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2999939	chr1:159014559-159014560	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548380506	chr1:159014579-159014580	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191794205	chr1:159014591-159014592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2999938	chr1:159014614-159014615	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201533204	chr1:159014615-159014616	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2999937	chr1:159014616-159014617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2436843	chr1:159014626-159014627	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2236584	chr1:159014645-159014646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs552620780	chr1:159014707-159014708	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11265134	chr1:159014718-159014719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs531621896	chr1:159014744-159014745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550156920	chr1:159014753-159014754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568569397	chr1:159014756-159014757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536000898	chr1:159014776-159014777	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554297667	chr1:159014807-159014808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187497708	chr1:159014813-159014814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201941904	chr1:159014832-159014833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539598616	chr1:159014906-159014907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557790957	chr1:159014936-159014937	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576253277	chr1:159014948-159014949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142018488	chr1:159014967-159014968	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554899232	chr1:159014993-159014994	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563350427	chr1:159015001-159015002	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573301171	chr1:159015148-159015149	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
3	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
5	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
7	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:158993000-159023200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:158997600-159017000	Strong transcription	Primary B cells from cord blood	blood
11	chr1:158998400-159024000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:158998600-159014600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:158998600-159015600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:158998800-159033800	Weak transcription	Fetal Brain Female	brain
15	chr1:158999000-159014400	Strong transcription	Fetal Intestine Large	intestine
16	chr1:158999000-159022800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:158999200-159023800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:159000000-159026200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:159000400-159024200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:159000600-159014200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:159000600-159020200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:159000600-159023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:159001000-159016000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:159001000-159016600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:159001000-159027400	Weak transcription	Right Ventricle	heart
26	chr1:159001200-159014400	Strong transcription	Ovary	ovary
27	chr1:159001200-159017200	Strong transcription	HUVEC	blood vessel
28	chr1:159001400-159014200	Strong transcription	Adipose Nuclei	Adipose
29	chr1:159001400-159020200	Weak transcription	Brain Anterior Caudate	brain
30	chr1:159001400-159020200	Weak transcription	Gastric	stomach
31	chr1:159001400-159024200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
33	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
34	chr1:159003000-159022000	Weak transcription	Fetal Brain Male	brain
35	chr1:159003400-159021400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:159003400-159021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:159004600-159022800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:159004800-159020200	Weak transcription	Colonic Mucosa	Colon
39	chr1:159005400-159023200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:159005600-159027200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:159006800-159024200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:159007200-159026800	Weak transcription	Pancreas	Pancrea
43	chr1:159009000-159023000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:159009000-159026400	Strong transcription	Dnd41	blood
45	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:159009400-159016800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr1:159009400-159020200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:159009600-159016600	Weak transcription	Esophagus	oesophagus
49	chr1:159010600-159023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:159010600-159026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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