Variant report

Variant	nsv817689
Chromosome Location	chr15:42423090-42431142
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42358458..42359350-chr15:42425452..42426798,6	MCF-7	breast:
2	chr15:42358651..42359363-chr15:42426255..42426773,2	K562	blood:
3	chr15:42279835..42282375-chr15:42428549..42430558,3	K562	blood:
4	chr15:42426456..42429397-chr15:42449787..42451841,2	MCF-7	breast:
5	chr15:42429166..42430382-chr15:42677434..42678387,4	K562	blood:
6	chr15:42281454..42282334-chr15:42425835..42426353,2	K562	blood:
7	chr15:42376516..42377170-chr15:42429615..42430377,2	MCF-7	breast:
8	chr15:42429960..42432547-chr15:42445427..42447652,2	MCF-7	breast:
9	chr10:7154539..7155440-chr15:42426209..42426733,2	K562	blood:
10	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
11	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
12	chr15:42430104..42432134-chr15:42441613..42443649,2	K562	blood:
13	chr15:42386498..42387304-chr15:42425872..42426548,2	MCF-7	breast:
14	chr15:42386430..42387458-chr15:42425769..42426797,8	MCF-7	breast:
15	chr15:42376241..42377224-chr15:42430049..42430612,3	K562	blood:
16	chr15:42430555..42433172-chr15:42433176..42434798,2	MCF-7	breast:
17	chr15:42430976..42436033-chr15:42436358..42441856,8	MCF-7	breast:
18	chr15:42357824..42359039-chr15:42425603..42426626,4	MCF-7	breast:
19	chr15:42360949..42362087-chr15:42429641..42430534,4	MCF-7	breast:
20	chr15:42360775..42361464-chr15:42423274..42423858,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159337	chromatin interactions
ENSG00000168907	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4924626	chr15:42423090-42423091	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530611666	chr15:42423092-42423093	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146977861	chr15:42423181-42423182	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150992680	chr15:42423205-42423206	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs536276787	chr15:42423256-42423257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191666043	chr15:42423335-42423336	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs17692546	chr15:42423456-42423457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539366847	chr15:42423511-42423512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369580373	chr15:42423522-42423523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112328012	chr15:42423551-42423552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575835081	chr15:42423579-42423580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538013992	chr15:42423581-42423582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs636596	chr15:42423583-42423584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17749181	chr15:42423630-42423631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540314645	chr15:42423636-42423637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560143815	chr15:42423637-42423638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183811585	chr15:42423654-42423655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190302982	chr15:42423696-42423697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140838538	chr15:42423709-42423710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377032266	chr15:42423753-42423754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181569538	chr15:42423757-42423758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550475814	chr15:42423766-42423767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370039508	chr15:42423769-42423770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185802861	chr15:42423770-42423771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116164777	chr15:42423901-42423902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190328965	chr15:42423902-42423903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79850334	chr15:42423905-42423906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538626591	chr15:42423915-42423916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558761068	chr15:42423961-42423962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74009005	chr15:42424003-42424004	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569403543	chr15:42424126-42424127	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs555369965	chr15:42424180-42424181	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538453855	chr15:42424230-42424231	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554829091	chr15:42424239-42424240	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554530968	chr15:42424257-42424258	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534074770	chr15:42424262-42424263	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572344871	chr15:42424270-42424271	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569940060	chr15:42424280-42424281	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370857351	chr15:42424303-42424304	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375116385	chr15:42424317-42424318	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545748010	chr15:42424341-42424342	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149388948	chr15:42424394-42424395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537802043	chr15:42424407-42424408	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34083840	chr15:42424462-42424463	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565208435	chr15:42424466-42424467	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577708885	chr15:42424467-42424468	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575417412	chr15:42424506-42424507	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544478401	chr15:42424521-42424522	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560952230	chr15:42424608-42424609	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28551056	chr15:42424617-42424618	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42419800-42429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42422400-42423200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr15:42422400-42423400	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr15:42422400-42426200	Enhancers	Fetal Thymus	thymus
6	chr15:42423200-42425000	Enhancers	Fetal Muscle Trunk	muscle
7	chr15:42423400-42425000	Enhancers	Fetal Muscle Leg	muscle
8	chr15:42423600-42424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:42423800-42424600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:42423800-42424600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:42423800-42424600	Enhancers	Brain Germinal Matrix	brain
12	chr15:42423800-42424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:42423800-42425200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:42424000-42424200	Bivalent Enhancer	HepG2	liver
15	chr15:42424000-42424400	Enhancers	Fetal Heart	heart
16	chr15:42424000-42424600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr15:42424000-42425000	Enhancers	Stomach Mucosa	stomach
18	chr15:42424200-42424400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:42424200-42424400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:42424200-42424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:42424200-42424600	Enhancers	Left Ventricle	heart
22	chr15:42424200-42424600	Enhancers	HepG2	liver
23	chr15:42424200-42424800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr15:42424200-42424800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:42424200-42424800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:42424200-42425000	Enhancers	Esophagus	oesophagus
27	chr15:42424600-42426200	Weak transcription	HepG2	liver
28	chr15:42424600-42427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:42424800-42429800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:42425000-42426200	Weak transcription	Stomach Mucosa	stomach
31	chr15:42425200-42435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:42426200-42426400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:42426200-42428200	Enhancers	HepG2	liver
34	chr15:42426400-42426800	Enhancers	Hela-S3	cervix
35	chr15:42426400-42427400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:42426600-42427200	Enhancers	A549	lung
37	chr15:42426800-42427600	Weak transcription	Hela-S3	cervix
38	chr15:42427400-42428200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:42427800-42428000	Enhancers	Hela-S3	cervix
40	chr15:42428200-42429800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:42428200-42429800	Weak transcription	HepG2	liver
42	chr15:42429600-42430600	Weak transcription	Stomach Mucosa	stomach
43	chr15:42429600-42430800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:42429800-42430000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr15:42429800-42430000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:42429800-42430000	Enhancers	Fetal Muscle Leg	muscle
47	chr15:42429800-42430200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:42429800-42430400	Enhancers	HUVEC	blood vessel
49	chr15:42429800-42433200	Enhancers	HepG2	liver
50	chr15:42430600-42431200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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