Variant report

Variant	esv3338975
Chromosome Location	chr15:45909185-45912033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45909621..45911394-chr15:45926061..45928799,2	MCF-7	breast:
2	chr15:45910835..45911364-chr15:45997627..45998448,2	MCF-7	breast:
3	chr15:45908544..45910284-chr15:45911212..45913714,2	K562	blood:
4	chr15:45911053..45913537-chr15:45922181..45923924,2	MCF-7	breast:
5	chr15:45908544..45910284-chr15:45911212..45913714,2	K562	blood:

Variant related genes	Relation type
ENSG00000137767	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139404472	chr15:45909198-45909199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188970989	chr15:45909301-45909302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3649	chr15:45909304-45909305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs373912238	chr15:45909378-45909379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142699471	chr15:45909473-45909474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567571180	chr15:45909486-45909487	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542008239	chr15:45909490-45909491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561905566	chr15:45909533-45909534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150504426	chr15:45909557-45909558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181368599	chr15:45909594-45909595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570940084	chr15:45909607-45909608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139469957	chr15:45909658-45909659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149681581	chr15:45909663-45909664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577443000	chr15:45909676-45909677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577665357	chr15:45909677-45909678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71465504	chr15:45909684-45909685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569843678	chr15:45909717-45909718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145512669	chr15:45909726-45909727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559267865	chr15:45909730-45909731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557871688	chr15:45909735-45909736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368129565	chr15:45909740-45909741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577726479	chr15:45909763-45909764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184315640	chr15:45909785-45909786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557549560	chr15:45909885-45909886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577692720	chr15:45909913-45909914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543045458	chr15:45909926-45909927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113567244	chr15:45909958-45909959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573108416	chr15:45909983-45909984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111706629	chr15:45910113-45910114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370029857	chr15:45910195-45910196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188696353	chr15:45910202-45910203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181211125	chr15:45910204-45910205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186185126	chr15:45910206-45910207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144811635	chr15:45910264-45910265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527843739	chr15:45910325-45910326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541639897	chr15:45910328-45910329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113693135	chr15:45910329-45910330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113293834	chr15:45910353-45910354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550017722	chr15:45910358-45910359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190681846	chr15:45910360-45910361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12915806	chr15:45910507-45910508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12917156	chr15:45910511-45910512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs80167639	chr15:45910520-45910521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569989626	chr15:45910541-45910542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529329538	chr15:45910542-45910543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12917274	chr15:45910556-45910557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12915945	chr15:45910558-45910559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111217946	chr15:45910727-45910728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4519297	chr15:45910750-45910751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538176915	chr15:45910795-45910796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45896800-45912400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:45898400-45911000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:45898800-45909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45898800-45911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr15:45899600-45912400	Weak transcription	HSMMtube	muscle
6	chr15:45900800-45911800	Weak transcription	Primary B cells from cord blood	blood
7	chr15:45901600-45909400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:45902200-45910200	Weak transcription	Fetal Brain Female	brain
9	chr15:45906200-45909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:45908400-45909800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:45908600-45909200	Enhancers	NHLF	lung
12	chr15:45908600-45909400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:45908600-45909600	Enhancers	Hela-S3	cervix
14	chr15:45908600-45909800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:45908600-45909800	Enhancers	NHEK	skin
16	chr15:45908800-45909200	Enhancers	Esophagus	oesophagus
17	chr15:45908800-45909400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:45908800-45909600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:45908800-45909800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:45908800-45909800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr15:45908800-45909800	Enhancers	HMEC	breast
22	chr15:45909000-45909200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:45909000-45909200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr15:45909000-45909200	Enhancers	NHDF-Ad	bronchial
25	chr15:45909000-45909400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:45909000-45909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:45909000-45909600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:45909000-45909600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr15:45909000-45909600	Enhancers	Duodenum Mucosa	Duodenum
30	chr15:45909200-45909400	Enhancers	HUVEC	blood vessel
31	chr15:45909200-45909600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr15:45909400-45909600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:45909400-45909600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr15:45909600-45909800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr15:45909600-45909800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:45909600-45926600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:45909800-45923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:45911000-45911200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:45911000-45911400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:45911400-45914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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