Variant report

Variant	esv3452252
Chromosome Location	chr1:45822535-45823505
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	chr1:45476699..45479087-chr1:45821651..45824622,2	MCF-7	breast:
2	chr1:45820483..45822752-chr1:45823249..45826098,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUTYH-2	chr1:45821127-45822970	predAs_engstrom06_AK128017_1

Variant related genes	Relation type
ENSG00000238945	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000126088	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77622107	chr1:45822563-45822564	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs538706571	chr1:45822583-45822584	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs111783010	chr1:45822588-45822589	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs528161816	chr1:45822618-45822619	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs547824914	chr1:45822631-45822632	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs561299223	chr1:45822645-45822646	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs111275151	chr1:45822648-45822649	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs550171798	chr1:45822651-45822652	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs570250647	chr1:45822652-45822653	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs538892710	chr1:45822653-45822654	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs552789183	chr1:45822655-45822656	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs566219894	chr1:45822664-45822665	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs191841820	chr1:45822719-45822720	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs555009644	chr1:45822740-45822741	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs574704414	chr1:45822741-45822742	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs534672759	chr1:45822790-45822791	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs569375259	chr1:45822792-45822793	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs151330332	chr1:45822869-45822870	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs59019267	chr1:45822903-45822904	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs60322485	chr1:45822907-45822908	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs199644219	chr1:45822911-45822912	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs200717117	chr1:45822912-45822913	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs543288243	chr1:45822915-45822916	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs59244417	chr1:45822916-45822917	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs577049319	chr1:45822935-45822936	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs370983857	chr1:45822944-45822945	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs77506398	chr1:45822980-45822981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
28	rs370878792	chr1:45823021-45823022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs72890587	chr1:45823027-45823028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115672026	chr1:45823033-45823034	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141925591	chr1:45823068-45823069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77161112	chr1:45823110-45823111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77946814	chr1:45823134-45823135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550529994	chr1:45823148-45823149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184387137	chr1:45823164-45823165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571241807	chr1:45823184-45823185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551044673	chr1:45823189-45823190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74390051	chr1:45823231-45823232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78478679	chr1:45823233-45823234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201764650	chr1:45823236-45823237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56328440	chr1:45823237-45823238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377039887	chr1:45823247-45823248	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552850511	chr1:45823273-45823274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190263507	chr1:45823279-45823280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375696400	chr1:45823347-45823348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192990113	chr1:45823348-45823349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs548670626	chr1:45823380-45823381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9429159	chr1:45823484-45823485	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs144501950	chr1:45823504-45823505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45807200-45825800	Weak transcription	Small Intestine	intestine
2	chr1:45808800-45825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:45810600-45825600	Weak transcription	Fetal Kidney	kidney
4	chr1:45811200-45825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:45811200-45825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:45811200-45825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:45811400-45825800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:45811400-45825800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:45811600-45825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:45812000-45826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:45812200-45825800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:45812400-45825600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:45812400-45825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:45812600-45825600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:45812600-45825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:45812600-45825800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:45812600-45826400	Weak transcription	Colonic Mucosa	Colon
18	chr1:45812800-45824400	Weak transcription	Gastric	stomach
19	chr1:45812800-45825600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:45812800-45825800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:45812800-45835800	Weak transcription	Thymus	Thymus
22	chr1:45813000-45825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:45813200-45825800	Weak transcription	Spleen	Spleen
24	chr1:45813800-45825400	Weak transcription	Fetal Stomach	stomach
25	chr1:45815200-45825600	Weak transcription	Fetal Lung	lung
26	chr1:45815200-45825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:45815200-45825800	Weak transcription	Right Atrium	heart
28	chr1:45815400-45825600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:45815400-45825600	Weak transcription	GM12878-XiMat	blood
30	chr1:45815400-45825800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:45815400-45826000	Weak transcription	Esophagus	oesophagus
32	chr1:45815400-45826000	Weak transcription	Left Ventricle	heart
33	chr1:45815600-45825600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:45816400-45825800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:45817400-45825800	Weak transcription	Ovary	ovary
36	chr1:45817600-45825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:45818000-45825600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:45819600-45825800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:45819800-45825400	Weak transcription	Placenta	Placenta
40	chr1:45819800-45825600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:45819800-45825800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:45819800-45825800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:45820000-45825600	Weak transcription	Liver	Liver
44	chr1:45820000-45825800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:45820600-45822600	Enhancers	HepG2	liver
46	chr1:45820800-45825600	Weak transcription	Fetal Intestine Small	intestine
47	chr1:45821000-45822600	Enhancers	Hela-S3	cervix
48	chr1:45821000-45823200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:45821200-45822800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:45821200-45825600	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links