Variant report

Variant	esv2753712
Chromosome Location	chr15:33894495-33914004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33902112..33903948-chr15:33926108..33928940,2	K562	blood:
2	chr15:33601747..33602901-chr15:33900633..33901527,4	MCF-7	breast:
3	chr15:33904850..33906861-chr15:33932211..33933758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259446	chromatin interactions

Extended variants
information (count: 825 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519833	chr15:33894495-33894496	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191013255	chr15:33894517-33894518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142093070	chr15:33894520-33894521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10519834	chr15:33894526-33894527	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564956235	chr15:33894536-33894537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532270729	chr15:33894664-33894665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544191613	chr15:33894669-33894670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151167296	chr15:33894684-33894685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182758110	chr15:33894722-33894723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548136810	chr15:33894734-33894735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540092484	chr15:33894737-33894738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560033766	chr15:33894761-33894762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571504597	chr15:33894763-33894764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140141959	chr15:33894770-33894771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146925810	chr15:33894803-33894804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186662741	chr15:33894807-33894808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537992036	chr15:33894854-33894855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77506677	chr15:33894866-33894867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371185314	chr15:33894876-33894877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562946211	chr15:33894887-33894888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66951930	chr15:33894894-33894895	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375226280	chr15:33894929-33894930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10578832	chr15:33894963-33894964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191563455	chr15:33894996-33894997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183300700	chr15:33895002-33895003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545266086	chr15:33895041-33895042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113888851	chr15:33895065-33895066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572809379	chr15:33895090-33895091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540014146	chr15:33895100-33895101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11632975	chr15:33895122-33895123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558436924	chr15:33895177-33895178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138581749	chr15:33895198-33895199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543931151	chr15:33895211-33895212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562605022	chr15:33895228-33895229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs188972387	chr15:33895230-33895231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541845477	chr15:33895235-33895236	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142606079	chr15:33895303-33895304	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367743339	chr15:33895324-33895325	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146818373	chr15:33895325-33895326	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371008189	chr15:33895329-33895330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7168928	chr15:33895330-33895331	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368209451	chr15:33895346-33895347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372045851	chr15:33895353-33895354	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527626604	chr15:33895374-33895375	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193106812	chr15:33895387-33895388	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374941142	chr15:33895406-33895407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368142068	chr15:33895409-33895410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs185018887	chr15:33895412-33895413	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200675332	chr15:33895430-33895431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371755713	chr15:33895468-33895469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33858000-33921200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:33858600-33895200	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:33859200-33923200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:33873000-33923400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:33873800-33895200	Weak transcription	Aorta	Aorta
6	chr15:33890800-33897200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:33891800-33921800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:33892800-33904200	Weak transcription	Fetal Stomach	stomach
9	chr15:33893200-33895600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:33893400-33897600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:33893800-33905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:33893800-33911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:33894600-33900400	Weak transcription	Psoas Muscle	Psoas
14	chr15:33895200-33895600	ZNF genes & repeats	Aorta	Aorta
15	chr15:33895200-33897600	Strong transcription	Fetal Muscle Leg	muscle
16	chr15:33895600-33896800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:33895600-33922800	Weak transcription	Aorta	Aorta
18	chr15:33897600-33915800	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:33897600-33919600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:33898600-33899200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:33900600-33900800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr15:33900600-33901800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:33901800-33905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:33904800-33905000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr15:33904800-33905200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:33904800-33905400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:33904800-33905400	Bivalent Enhancer	HSMMtube	muscle
28	chr15:33905000-33905200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:33905000-33905400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:33905000-33905400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:33905000-33905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:33905000-33905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:33905000-33905800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr15:33905200-33905600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr15:33905200-33905600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr15:33905200-33905600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:33905200-33905800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:33905400-33905600	Flanking Bivalent TSS/Enh	HSMMtube	muscle
39	chr15:33905400-33905800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:33905400-33908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:33905600-33915200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:33908600-33909000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr15:33908600-33909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:33910800-33911000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:33911800-33912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:33912600-33918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:33913000-33932200	Weak transcription	Brain Hippocampus Middle	brain

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