Variant report

Variant	esv18527
Chromosome Location	chr15:29983142-29983647
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	chr15:29983051..29984598-chr15:30024023..30026061,2	MCF-7	breast:
2	chr15:29978882..29981352-chr15:29982247..29985034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104067	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs260535	chr15:29983155-29983156	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542094711	chr15:29983177-29983178	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561866232	chr15:29983196-29983197	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs260534	chr15:29983229-29983230	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76667885	chr15:29983291-29983292	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143290729	chr15:29983295-29983296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs260533	chr15:29983310-29983311	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544757948	chr15:29983325-29983326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552744069	chr15:29983406-29983407	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560025568	chr15:29983439-29983440	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182869495	chr15:29983451-29983452	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528502317	chr15:29983506-29983507	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147892307	chr15:29983529-29983530	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568625395	chr15:29983558-29983559	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs260532	chr15:29983638-29983639	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550714286	chr15:29983643-29983644	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Epilepsy	20502679	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:29969200-29992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:29972800-29989200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:29973600-29989600	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:29977800-29996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:29978000-29983200	Weak transcription	HMEC	breast
6	chr15:29978400-29983200	Weak transcription	HSMMtube	muscle
7	chr15:29978400-29990400	Weak transcription	NHLF	lung
8	chr15:29978600-29983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:29978600-29983200	Weak transcription	HUVEC	blood vessel
10	chr15:29978600-29983200	Weak transcription	Osteobl	bone
11	chr15:29978600-29983400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:29978600-29984800	Weak transcription	NHDF-Ad	bronchial
13	chr15:29978800-29983200	Weak transcription	HSMM	muscle
14	chr15:29979200-29988400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:29979800-29993000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:29980800-29983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:29980800-29989800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:29980800-29989800	Weak transcription	Fetal Kidney	kidney
19	chr15:29980800-29996400	Weak transcription	Colonic Mucosa	Colon
20	chr15:29981000-29990400	Weak transcription	Lung	lung
21	chr15:29981000-29990600	Weak transcription	Fetal Intestine Large	intestine
22	chr15:29981000-29994400	Weak transcription	Fetal Intestine Small	intestine
23	chr15:29981200-29989600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:29981200-29993000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:29981400-29983200	Weak transcription	Gastric	stomach
26	chr15:29981400-29991800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:29981400-29994800	Weak transcription	K562	blood
28	chr15:29981400-29996400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:29981600-29990400	Weak transcription	Esophagus	oesophagus
30	chr15:29981600-29990400	Weak transcription	Placenta	Placenta
31	chr15:29982000-29992000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr15:29982800-29983600	Enhancers	Stomach Mucosa	stomach
33	chr15:29982800-29983600	Enhancers	NH-A	brain
34	chr15:29982800-29983800	Enhancers	Pancreas	Pancrea
35	chr15:29982800-29984000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:29982800-29984200	Enhancers	Liver	Liver
37	chr15:29983000-29983200	Flanking Active TSS	A549	lung
38	chr15:29983000-29983600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:29983000-29983800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:29983000-29983800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr15:29983000-29984000	Enhancers	HepG2	liver
42	chr15:29983000-29989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:29983200-29983400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr15:29983200-29983400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:29983200-29983400	Enhancers	A549	lung
46	chr15:29983200-29983400	Strong transcription	HSMMtube	muscle
47	chr15:29983200-29983600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:29983200-29983600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:29983200-29983600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:29983200-29983600	Enhancers	Osteobl	bone

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