Variant report

Variant	esv3394108
Chromosome Location	chr15:77808951-77809227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77793912..77796870-chr15:77807695..77810216,2	MCF-7	breast:
2	chr15:77809090..77810825-chr15:77820022..77822006,2	MCF-7	breast:
3	chr15:77806711..77809652-chr15:77816101..77819941,3	MCF-7	breast:
4	chr15:77800020..77805731-chr15:77808908..77813033,5	MCF-7	breast:
5	chr15:77803142..77806483-chr15:77808853..77811512,3	K562	blood:
6	chr15:77800783..77803044-chr15:77808974..77810922,2	K562	blood:

Variant related genes	Relation type
ENSG00000259362	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555307401	chr15:77808951-77808952	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113829475	chr15:77808981-77808982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12902698	chr15:77809010-77809011	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs76773315	chr15:77809014-77809015	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12902852	chr15:77809016-77809017	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs545225749	chr15:77809028-77809029	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560460921	chr15:77809029-77809030	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184962689	chr15:77809038-77809039	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117030863	chr15:77809039-77809040	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115900473	chr15:77809053-77809054	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190953215	chr15:77809091-77809092	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549606461	chr15:77809094-77809095	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200555274	chr15:77809124-77809125	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571359388	chr15:77809133-77809134	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539628995	chr15:77809135-77809136	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549945546	chr15:77809146-77809147	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12902896	chr15:77809150-77809151	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12902912	chr15:77809170-77809171	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs534183111	chr15:77809201-77809202	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183669979	chr15:77809202-77809203	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573696261	chr15:77809215-77809216	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77800400-77819600	Weak transcription	Fetal Brain Female	brain
2	chr15:77801000-77818800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:77801400-77820000	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:77801600-77821400	Weak transcription	Pancreas	Pancrea
5	chr15:77802600-77820000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:77803200-77809200	Weak transcription	Right Atrium	heart
7	chr15:77803200-77819200	Weak transcription	Lung	lung
8	chr15:77803400-77809200	Weak transcription	Placenta	Placenta
9	chr15:77803800-77811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:77804000-77811200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:77804200-77819400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:77804200-77819800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:77807000-77810800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:77807400-77811000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:77807400-77819400	Weak transcription	Right Ventricle	heart
16	chr15:77807600-77810400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:77807600-77819600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:77808000-77810000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:77808000-77819000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:77808200-77809000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:77808200-77809000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:77808200-77809000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:77808200-77809200	Enhancers	Osteobl	bone
24	chr15:77808200-77811200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:77808200-77811800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:77808200-77819200	Weak transcription	Left Ventricle	heart
27	chr15:77808200-77820600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:77808400-77809200	Enhancers	NHDF-Ad	bronchial
29	chr15:77808400-77810600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:77808600-77809000	Bivalent Enhancer	HepG2	liver
31	chr15:77808600-77809200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:77808600-77811000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:77808600-77813200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:77808600-77820000	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:77808600-77821400	Weak transcription	Brain Anterior Caudate	brain
36	chr15:77808800-77809200	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:77808800-77809200	Weak transcription	Spleen	Spleen
38	chr15:77808800-77811000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr15:77809000-77809200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:77809200-77809400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:77809200-77809400	Enhancers	Right Atrium	heart
42	chr15:77809200-77809400	Enhancers	Spleen	Spleen
43	chr15:77809200-77809600	Enhancers	Placenta	Placenta
44	chr15:77809200-77810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:77809200-77812200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:77809200-77819400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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