Variant report

Variant	esv7451
Chromosome Location	chr15:52524961-52525774
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	chr15:52520877..52522858-chr15:52523295..52525074,3	MCF-7	breast:
2	chr15:52521390..52524844-chr15:52525282..52528513,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185644020	chr15:52524966-52524967	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150566018	chr15:52525017-52525018	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546611804	chr15:52525126-52525127	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373051659	chr15:52525195-52525196	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113391995	chr15:52525242-52525243	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561522606	chr15:52525293-52525294	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375184197	chr15:52525424-52525425	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs28494129	chr15:52525467-52525468	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112807401	chr15:52525485-52525486	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28580570	chr15:52525497-52525498	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200663754	chr15:52525506-52525507	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201561497	chr15:52525509-52525510	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28665486	chr15:52525511-52525512	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs28698957	chr15:52525512-52525513	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370851508	chr15:52525513-52525514	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369969705	chr15:52525514-52525515	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111382773	chr15:52525515-52525516	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145086496	chr15:52525516-52525517	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190502946	chr15:52525563-52525564	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370938753	chr15:52525571-52525572	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191318333	chr15:52525622-52525623	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568617661	chr15:52525634-52525635	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559228593	chr15:52525687-52525688	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80120789	chr15:52525712-52525713	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117597222	chr15:52525717-52525718	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111454600	chr15:52525722-52525723	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535306319	chr15:52525730-52525731	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373214473	chr15:52525743-52525744	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52479800-52532800	Weak transcription	Brain Angular Gyrus	brain
2	chr15:52497400-52535600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:52497800-52549000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:52501600-52532600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:52501800-52528000	Weak transcription	Fetal Heart	heart
6	chr15:52505400-52526800	Weak transcription	Right Ventricle	heart
7	chr15:52505600-52525600	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:52505600-52549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:52506400-52548800	Weak transcription	Fetal Kidney	kidney
10	chr15:52509400-52537200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:52509800-52526800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:52510600-52525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:52512800-52534000	Weak transcription	Colonic Mucosa	Colon
14	chr15:52514000-52539400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:52514400-52525600	Weak transcription	Thymus	Thymus
16	chr15:52515600-52525600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:52516000-52525600	Weak transcription	Fetal Thymus	thymus
18	chr15:52516000-52549400	Weak transcription	Left Ventricle	heart
19	chr15:52516200-52526400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:52516400-52525600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:52516800-52528200	Weak transcription	Spleen	Spleen
22	chr15:52517400-52526800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:52517400-52527000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:52518000-52525800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:52518600-52526800	Weak transcription	Gastric	stomach
26	chr15:52518800-52525600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:52518800-52526200	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:52519000-52525600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:52519000-52526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:52519000-52527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:52519000-52528200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:52520200-52525800	Weak transcription	A549	lung
33	chr15:52520200-52533800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:52521400-52525800	Weak transcription	Esophagus	oesophagus
35	chr15:52521400-52526800	Weak transcription	Liver	Liver
36	chr15:52521600-52530400	Weak transcription	Fetal Intestine Large	intestine
37	chr15:52521600-52531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:52521800-52525600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:52522200-52525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:52522400-52525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:52522400-52526800	Weak transcription	Lung	lung
42	chr15:52522400-52531400	Weak transcription	Stomach Mucosa	stomach
43	chr15:52523400-52525000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr15:52523400-52528600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:52523400-52530000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:52523400-52530400	Strong transcription	HepG2	liver
47	chr15:52523400-52532400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:52523400-52532600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:52523400-52548600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:52523600-52525000	Enhancers	Monocytes-CD14+_RO01746	blood

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