Variant report

Variant	esv19080
Chromosome Location	chr15:82483011-82486833
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	chr15:82465181..82467213-chr15:82481479..82484313,2	MCF-7	breast:
2	chr15:82470019..82471911-chr15:82482678..82484339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212170	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530154914	chr15:82483071-82483072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114505436	chr15:82483100-82483101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571384614	chr15:82483148-82483149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192833660	chr15:82483173-82483174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72749564	chr15:82483260-82483261	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs572482476	chr15:82483366-82483367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552823952	chr15:82483375-82483376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553702575	chr15:82483376-82483377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72749565	chr15:82483377-82483378	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535317575	chr15:82483467-82483468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150392261	chr15:82483489-82483490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567963635	chr15:82483585-82483586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62012005	chr15:82483586-82483587	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145410633	chr15:82483642-82483643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576876613	chr15:82483670-82483671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188969604	chr15:82483679-82483680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539219966	chr15:82483765-82483766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552765244	chr15:82483781-82483782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572736065	chr15:82483789-82483790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541008434	chr15:82483803-82483804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114013010	chr15:82483829-82483830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574702084	chr15:82483830-82483831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181656846	chr15:82483858-82483859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11073035	chr15:82483872-82483873	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532652570	chr15:82483880-82483881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552736086	chr15:82483894-82483895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559962705	chr15:82483895-82483896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528740611	chr15:82483921-82483922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548892725	chr15:82483928-82483929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60123885	chr15:82483932-82483933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs57000651	chr15:82483934-82483935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs57315862	chr15:82483939-82483940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386785848	chr15:82483947-82483948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60391430	chr15:82483948-82483949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568748392	chr15:82483998-82483999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536598932	chr15:82484029-82484030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550574723	chr15:82484030-82484031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62012006	chr15:82484085-82484086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145119007	chr15:82484122-82484123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568977887	chr15:82484205-82484206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2455063	chr15:82484242-82484243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533039371	chr15:82484276-82484277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533478365	chr15:82484290-82484291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2455062	chr15:82484302-82484303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371182626	chr15:82484406-82484407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552679505	chr15:82484469-82484470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572691126	chr15:82484666-82484667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138982170	chr15:82484683-82484684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111568170	chr15:82484742-82484743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143602628	chr15:82484743-82484744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:82444600-82495800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:82456000-82510000	Weak transcription	Thymus	Thymus
4	chr15:82456400-82487000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:82456400-82502200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr15:82456400-82502400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:82456400-82502600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:82456400-82502800	Weak transcription	Gastric	stomach
9	chr15:82456400-82505400	Weak transcription	Dnd41	blood
10	chr15:82456400-82505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:82456400-82505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:82456600-82497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:82456800-82509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:82458200-82504800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:82458800-82502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:82462000-82505800	Weak transcription	Primary B cells from cord blood	blood
17	chr15:82464000-82494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:82465000-82510000	Weak transcription	Placenta	Placenta
19	chr15:82471000-82502200	Weak transcription	NHEK	skin
20	chr15:82471000-82502800	Weak transcription	Fetal Stomach	stomach
21	chr15:82471000-82518600	Weak transcription	Right Ventricle	heart
22	chr15:82471200-82485000	Weak transcription	NHDF-Ad	bronchial
23	chr15:82474800-82502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:82474800-82502800	Weak transcription	Fetal Intestine Large	intestine
25	chr15:82475400-82502600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:82475800-82490200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:82476000-82519200	Weak transcription	Pancreas	Pancrea
28	chr15:82476400-82502800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:82476600-82502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:82476800-82485000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:82477000-82484400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:82477000-82485200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:82477000-82486200	Weak transcription	Hela-S3	cervix
34	chr15:82477000-82490400	Weak transcription	Primary T cells from cord blood	blood
35	chr15:82477000-82502600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:82477000-82510000	Weak transcription	HMEC	breast
37	chr15:82477000-82519200	Weak transcription	HSMMtube	muscle
38	chr15:82477400-82502600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:82477600-82485600	Weak transcription	Psoas Muscle	Psoas
40	chr15:82477600-82490200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:82477600-82522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:82478600-82484200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:82479600-82496800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:82479800-82489000	Weak transcription	GM12878-XiMat	blood
45	chr15:82479800-82495600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:82479800-82510200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:82480000-82502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:82481800-82490200	Weak transcription	HSMM	muscle
49	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:82483000-82485000	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links