Variant report

Variant	esv18166
Chromosome Location	chr2:133179996-133180895
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	chr2:133171122..133175666-chr2:133177374..133180650,5	MCF-7	breast:
2	chr2:133180532..133182214-chr2:133186789..133189602,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183840	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 59 )

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	rs55866119	chr2:133180020-133180021	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192840422	chr2:133180067-133180068	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111478561	chr2:133180091-133180092	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376805126	chr2:133180204-133180205	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538724213	chr2:133180208-133180209	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570924933	chr2:133180254-133180255	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372131017	chr2:133180290-133180291	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553975345	chr2:133180316-133180317	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12471496	chr2:133180332-133180333	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73955641	chr2:133180366-133180367	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560661185	chr2:133180410-133180411	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73955642	chr2:133180417-133180418	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543429014	chr2:133180441-133180442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564703767	chr2:133180455-133180456	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530138932	chr2:133180459-133180460	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532872486	chr2:133180474-133180475	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547761663	chr2:133180551-133180552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151140654	chr2:133180586-133180587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530320430	chr2:133180587-133180588	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185330239	chr2:133180588-133180589	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190201464	chr2:133180646-133180647	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182031077	chr2:133180719-133180720	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563810850	chr2:133180721-133180722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56165765	chr2:133180722-133180723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200321090	chr2:133180748-133180749	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185048995	chr2:133180762-133180763	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188291527	chr2:133180783-133180784	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372762614	chr2:133180819-133180820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571971961	chr2:133180830-133180831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536060714	chr2:133180867-133180868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569622004	chr2:133180891-133180892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133173600-133182000	Weak transcription	Small Intestine	intestine
2	chr2:133174800-133181600	Weak transcription	NHLF	lung
3	chr2:133175400-133182400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:133175600-133181800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:133176400-133180000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:133177200-133180000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:133177200-133181800	Weak transcription	Pancreas	Pancrea
8	chr2:133177200-133183600	Enhancers	Fetal Intestine Large	intestine
9	chr2:133177200-133188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:133177400-133181800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:133177600-133181400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:133177600-133181800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:133177800-133180000	Enhancers	Fetal Intestine Small	intestine
14	chr2:133177800-133180600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:133178200-133180600	Enhancers	Fetal Heart	heart
16	chr2:133178600-133181800	Weak transcription	HSMMtube	muscle
17	chr2:133178600-133195000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:133178800-133180000	Enhancers	NHEK	skin
19	chr2:133178800-133180400	Weak transcription	Gastric	stomach
20	chr2:133178800-133181000	Weak transcription	Liver	Liver
21	chr2:133179200-133180600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:133179200-133182000	Weak transcription	Stomach Mucosa	stomach
23	chr2:133179400-133181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:133179400-133181800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:133179400-133182000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:133179400-133185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:133179400-133188000	Weak transcription	A549	lung
28	chr2:133179600-133181800	Weak transcription	HMEC	breast
29	chr2:133179600-133181800	Weak transcription	Osteobl	bone
30	chr2:133179600-133182000	Weak transcription	NHDF-Ad	bronchial
31	chr2:133179600-133195000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:133179800-133180600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:133179800-133181400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:133180000-133181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:133180000-133181600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:133180000-133185600	Weak transcription	NHEK	skin
37	chr2:133180000-133187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:133180400-133180800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:133180400-133181000	Enhancers	Gastric	stomach
40	chr2:133180600-133180800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:133180600-133181000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:133180600-133181400	Weak transcription	Fetal Heart	heart
43	chr2:133180600-133183000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:133180800-133182200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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