Variant report

Variant	esv2179916
Chromosome Location	chr1:114266767-114271334
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:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114255171..114257504-chr1:114268146..114270647,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSBN1-3	chr1:114270998-114271967	ucscGeneNc_uc001eek_2
2	lnc-RSBN1-3	chr1:114268147-114268477	ucscGeneNc_uc001eek_2
3	lnc-RSBN1-3	chr1:114270773-114270886	ucscGeneNc_uc001eek_2

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PHTF1	hsa-miR-25-3p	chr1:114268082-114268103

Variant related genes	Relation type
ENSG00000116793	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186385626	chr1:114266777-114266778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189628527	chr1:114266780-114266781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532959027	chr1:114266829-114266830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76070771	chr1:114266865-114266866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180688220	chr1:114266888-114266889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569636348	chr1:114266937-114266938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535637107	chr1:114267004-114267005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548676447	chr1:114267018-114267019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376762522	chr1:114267029-114267030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565685760	chr1:114267041-114267042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534641959	chr1:114267079-114267080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554500091	chr1:114267118-114267119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568953422	chr1:114267127-114267128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577637906	chr1:114267135-114267136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539627916	chr1:114267137-114267138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202073360	chr1:114267163-114267164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556731739	chr1:114267174-114267175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61211077	chr1:114267178-114267179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200467247	chr1:114267200-114267201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535709027	chr1:114267267-114267268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185270392	chr1:114267284-114267285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372234532	chr1:114267307-114267308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375687583	chr1:114267332-114267333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1230640	chr1:114267347-114267348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs572100225	chr1:114267355-114267356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79904100	chr1:114267402-114267403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372900106	chr1:114267436-114267437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201176040	chr1:114267437-114267438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199685744	chr1:114267441-114267442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116732089	chr1:114267482-114267483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200552382	chr1:114267508-114267509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189976084	chr1:114267628-114267629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563522635	chr1:114267637-114267638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1981319	chr1:114267645-114267646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs183294126	chr1:114267675-114267676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187294929	chr1:114267690-114267691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557752835	chr1:114267733-114267734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368160209	chr1:114267738-114267739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551428925	chr1:114267745-114267746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10858015	chr1:114267951-114267952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540147048	chr1:114267960-114267961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556433147	chr1:114267973-114267974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373662960	chr1:114267978-114267979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570240401	chr1:114268072-114268073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535710847	chr1:114268125-114268126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191695588	chr1:114268157-114268158	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs183469589	chr1:114268224-114268225	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs75245814	chr1:114268225-114268226	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs541013952	chr1:114268236-114268237	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs557747324	chr1:114268260-114268261	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114227000-114268200	Weak transcription	NHLF	lung
4	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
6	chr1:114238400-114266800	Weak transcription	NHEK	skin
7	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
9	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:114248800-114290200	Weak transcription	HMEC	breast
15	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:114253200-114266800	Weak transcription	HSMM	muscle
19	chr1:114253400-114266800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
21	chr1:114254600-114277000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:114254800-114271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:114256600-114283600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:114256600-114288800	Weak transcription	K562	blood
25	chr1:114256800-114277200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:114257600-114283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
28	chr1:114258000-114267200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
30	chr1:114261000-114269200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:114261400-114267600	Weak transcription	A549	lung
32	chr1:114261400-114271400	Weak transcription	Thymus	Thymus
33	chr1:114261400-114277200	Weak transcription	HepG2	liver
34	chr1:114261400-114279000	Weak transcription	Spleen	Spleen
35	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:114261400-114301000	Weak transcription	Lung	lung
38	chr1:114261600-114266800	Weak transcription	Left Ventricle	heart
39	chr1:114261600-114268200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:114261600-114269200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:114261600-114272200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:114261600-114280200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
44	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
45	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
46	chr1:114261600-114300600	Weak transcription	Gastric	stomach
47	chr1:114261800-114266800	Weak transcription	Ovary	ovary
48	chr1:114262000-114272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:114262000-114286400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:114263600-114266800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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