Variant report

Variant	esv2481152
Chromosome Location	chr15:59712179-59713784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6494109	chr15:59712350-59712351	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537742486	chr15:59712353-59712354	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189012477	chr15:59712412-59712413	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs6494110	chr15:59712427-59712428	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs6494111	chr15:59712440-59712441	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560574519	chr15:59712485-59712486	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs559175143	chr15:59712519-59712520	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564233792	chr15:59712522-59712523	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs528300587	chr15:59712530-59712531	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs140962507	chr15:59712532-59712533	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs182095965	chr15:59712538-59712539	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs532064087	chr15:59712548-59712549	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs550186132	chr15:59712605-59712606	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562379189	chr15:59712673-59712674	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529672927	chr15:59712687-59712688	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548128503	chr15:59712737-59712738	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548127901	chr15:59712770-59712771	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145115705	chr15:59712790-59712791	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11856944	chr15:59712811-59712812	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551996277	chr15:59712812-59712813	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551058387	chr15:59712831-59712832	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186863078	chr15:59712859-59712860	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192156426	chr15:59712894-59712895	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201343830	chr15:59712899-59712900	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199811564	chr15:59712900-59712901	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556198726	chr15:59712916-59712917	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574632499	chr15:59712917-59712918	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111584584	chr15:59713019-59713020	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201629325	chr15:59713215-59713216	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs200816097	chr15:59713217-59713218	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs147503010	chr15:59713225-59713226	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs550304940	chr15:59713358-59713359	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374891719	chr15:59713370-59713371	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs183930791	chr15:59713373-59713374	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs72749146	chr15:59713398-59713399	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546302776	chr15:59713434-59713435	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs375930986	chr15:59713464-59713465	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs72749147	chr15:59713520-59713521	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs543963413	chr15:59713528-59713529	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs370276506	chr15:59713534-59713535	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs11857940	chr15:59713615-59713616	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529502490	chr15:59713637-59713638	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs55904855	chr15:59713649-59713650	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs55720928	chr15:59713682-59713683	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527421259	chr15:59713686-59713687	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs189909759	chr15:59713731-59713732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs17302379	chr15:59713733-59713734	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59706000-59712200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:59710400-59712800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr15:59710600-59713400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:59711200-59713600	Enhancers	Primary B cells from cord blood	blood
5	chr15:59711400-59712800	Enhancers	GM12878-XiMat	blood
6	chr15:59711600-59713000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:59711600-59713600	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:59712000-59712200	Enhancers	Fetal Brain Male	brain
9	chr15:59712000-59713600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:59712200-59712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:59712200-59712800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr15:59712200-59712800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr15:59712200-59713400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr15:59712200-59713800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:59712400-59712600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr15:59712400-59712600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:59712400-59712600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:59712400-59712800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr15:59712400-59713200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr15:59712400-59713400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:59712400-59713400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr15:59712600-59713200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:59712600-59713400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr15:59712600-59713400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:59713200-59713600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr15:59713200-59713600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr15:59713200-59713800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:59713400-59713600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr15:59713400-59713600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr15:59713400-59713600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr15:59713400-59713600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr15:59713400-59713600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr15:59713400-59713600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr15:59713400-59713600	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr15:59713400-59713600	Bivalent Enhancer	Left Ventricle	heart
36	chr15:59713400-59713800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:59713400-59713800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:59713600-59713800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr15:59713600-59714000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr15:59713600-59716000	Weak transcription	Primary B cells from peripheral blood	blood

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