Variant report

Variant	esv3410791
Chromosome Location	chr15:58765347-58765906
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	chr15:58623181..58625459-chr15:58764481..58766715,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-9	chr15:58765830-58765959	NONHSAT044093

Variant related genes	Relation type
ENSG00000128918	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77231508	chr15:58765383-58765384	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113851816	chr15:58765392-58765393	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117151690	chr15:58765397-58765398	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183749585	chr15:58765401-58765402	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543436761	chr15:58765418-58765419	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368927435	chr15:58765446-58765447	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548256908	chr15:58765480-58765481	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567787166	chr15:58765488-58765489	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537027033	chr15:58765507-58765508	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550226759	chr15:58765523-58765524	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569982848	chr15:58765527-58765528	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538858878	chr15:58765549-58765550	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34577128	chr15:58765564-58765565	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111671952	chr15:58765581-58765582	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76937582	chr15:58765603-58765604	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534847541	chr15:58765624-58765625	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555033172	chr15:58765656-58765657	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150883587	chr15:58765657-58765658	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538366889	chr15:58765683-58765684	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543772336	chr15:58765693-58765694	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139657183	chr15:58765713-58765714	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577161577	chr15:58765724-58765725	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546115321	chr15:58765767-58765768	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs578078556	chr15:58765771-58765772	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7165495	chr15:58765773-58765774	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528271770	chr15:58765796-58765797	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189076270	chr15:58765797-58765798	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537847036	chr15:58765846-58765847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs28417614	chr15:58765890-58765891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs376304740	chr15:58765893-58765894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs12591624	chr15:58765897-58765898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

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
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
Acute monocytic leukemia	16498392	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58743800-58770400	Enhancers	Fetal Thymus	thymus
2	chr15:58755800-58765800	Weak transcription	Gastric	stomach
3	chr15:58759400-58768400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:58759400-58770400	Enhancers	Placenta	Placenta
5	chr15:58760400-58770200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:58760600-58767000	Weak transcription	Fetal Intestine Large	intestine
7	chr15:58761000-58767200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:58761400-58766600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:58762000-58766200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:58762600-58766600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:58763000-58769400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:58763600-58765600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:58763800-58765400	Enhancers	Primary T cells from cord blood	blood
14	chr15:58763800-58765400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:58763800-58766600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:58764000-58770200	Enhancers	Fetal Muscle Leg	muscle
17	chr15:58764000-58770200	Enhancers	Thymus	Thymus
18	chr15:58764400-58766200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:58764600-58765400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr15:58764600-58766000	Enhancers	Left Ventricle	heart
21	chr15:58764600-58766400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:58764600-58767000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:58764600-58769600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:58764600-58769600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:58764600-58770200	Enhancers	Spleen	Spleen
26	chr15:58764800-58765400	Enhancers	A549	lung
27	chr15:58764800-58765400	Enhancers	HUVEC	blood vessel
28	chr15:58764800-58766000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr15:58764800-58766400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:58764800-58766400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:58764800-58766400	Enhancers	Hela-S3	cervix
32	chr15:58764800-58766400	Enhancers	NHDF-Ad	bronchial
33	chr15:58764800-58766600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:58764800-58766600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:58764800-58769600	Enhancers	HSMMtube	muscle
36	chr15:58765000-58765400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr15:58765000-58765400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:58765000-58765400	Enhancers	Brain Hippocampus Middle	brain
39	chr15:58765000-58765400	Enhancers	Fetal Muscle Trunk	muscle
40	chr15:58765000-58765400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr15:58765000-58765400	Enhancers	NH-A	brain
42	chr15:58765000-58765600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:58765000-58765600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr15:58765000-58765600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:58765000-58765600	Enhancers	Primary B cells from cord blood	blood
46	chr15:58765000-58765600	Enhancers	Fetal Stomach	stomach
47	chr15:58765000-58765600	Enhancers	Right Ventricle	heart
48	chr15:58765000-58765800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:58765000-58765800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:58765000-58765800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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