Variant report

Variant	esv2527540
Chromosome Location	chr1:84710029-84716624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84708889..84710683-chr1:84712706..84714926,2	MCF-7	breast:
2	chr1:84707348..84709881-chr1:84716416..84718748,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKACB-5	chr1:84710017-84710260	NONHSAT004193

Variant related genes	Relation type
ENSG00000226970	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187601660	chr1:84710138-84710139	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535024816	chr1:84710145-84710146	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191764800	chr1:84710155-84710156	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs112073956	chr1:84710217-84710218	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs146873566	chr1:84710227-84710228	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544140789	chr1:84710292-84710293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563828201	chr1:84710316-84710317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72940040	chr1:84710327-84710328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542657384	chr1:84710349-84710350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559366937	chr1:84710360-84710361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185037283	chr1:84710409-84710410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114867286	chr1:84710422-84710423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565129655	chr1:84710439-84710440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530615905	chr1:84710456-84710457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72940042	chr1:84710471-84710472	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368177161	chr1:84710476-84710477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567458305	chr1:84710508-84710509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551014869	chr1:84710529-84710530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571117305	chr1:84710530-84710531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536113957	chr1:84710542-84710543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113545615	chr1:84710546-84710547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142986166	chr1:84710594-84710595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574004056	chr1:84710615-84710616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372082314	chr1:84710633-84710634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542812672	chr1:84710647-84710648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72940043	chr1:84710663-84710664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564248180	chr1:84710668-84710669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576215538	chr1:84710674-84710675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189604914	chr1:84710733-84710734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs180681591	chr1:84710734-84710735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554083485	chr1:84710739-84710740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371500441	chr1:84710751-84710752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557493163	chr1:84710755-84710756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72940044	chr1:84710772-84710773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543324658	chr1:84710780-84710781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553040433	chr1:84710784-84710785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184431502	chr1:84710793-84710794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12406360	chr1:84710840-84710841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs222210	chr1:84710852-84710853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2684919	chr1:84710854-84710855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371396798	chr1:84710855-84710856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564834159	chr1:84710893-84710894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530587675	chr1:84710931-84710932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117862451	chr1:84710948-84710949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs316632	chr1:84710959-84710960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71097837	chr1:84710987-84710988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529971657	chr1:84710994-84710995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544176068	chr1:84711029-84711030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546480092	chr1:84711044-84711045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565782533	chr1:84711145-84711146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
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
Non-syndromic sensorineural hearing loss	21030649	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84666800-84710200	Weak transcription	HSMMtube	muscle
2	chr1:84672600-84711200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:84675200-84712800	Weak transcription	NH-A	brain
4	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:84690400-84711800	Weak transcription	Spleen	Spleen
7	chr1:84691200-84712200	Weak transcription	Pancreas	Pancrea
8	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:84699800-84711600	Weak transcription	A549	lung
10	chr1:84701200-84711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:84701200-84713200	Weak transcription	Colonic Mucosa	Colon
12	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:84701200-84719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:84701400-84713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:84701400-84713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:84701400-84719800	Weak transcription	Fetal Heart	heart
18	chr1:84701400-84719800	Weak transcription	HSMM	muscle
19	chr1:84701800-84710200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:84701800-84711600	Weak transcription	Fetal Lung	lung
21	chr1:84702800-84713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:84705600-84711200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:84705800-84711200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:84705800-84711600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:84705800-84711800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:84705800-84712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:84705800-84713000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:84705800-84723000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:84706000-84711400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:84706000-84711800	Weak transcription	Brain Anterior Caudate	brain
31	chr1:84706000-84711800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:84706000-84713000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:84706000-84713400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:84706200-84710600	Weak transcription	HUVEC	blood vessel
35	chr1:84706200-84711000	Weak transcription	Aorta	Aorta
36	chr1:84706200-84711200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:84706200-84711600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:84706200-84711800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:84706200-84713400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:84706600-84711600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:84706600-84713000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:84707000-84710200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:84708600-84711000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:84709600-84711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:84710000-84710400	Enhancers	Gastric	stomach
46	chr1:84710000-84711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:84710200-84710400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:84710200-84711600	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:84710400-84710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:84710600-84711800	Enhancers	HUVEC	blood vessel

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