Variant report

Variant	nsv1002197
Chromosome Location	chr2:133836002-133864689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133836968..133839255-chr2:133840150..133841905,2	K562	blood:
2	chr2:133826353..133828506-chr2:133839741..133842653,2	MCF-7	breast:
3	chr2:133427195..133430167-chr2:133854644..133856509,2	MCF-7	breast:
4	chr2:133850171..133852489-chr2:133854080..133856768,2	MCF-7	breast:
5	chr2:133850084..133851752-chr2:133851774..133853791,2	MCF-7	breast:
6	chr2:133850084..133851752-chr2:133851774..133853791,2	MCF-7	breast:
7	chr2:133811077..133813218-chr2:133838444..133841047,2	MCF-7	breast:
8	chr2:133836968..133839255-chr2:133840150..133841905,2	K562	blood:
9	chr2:133850171..133852489-chr2:133854080..133856768,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150551	chromatin interactions

Extended variants
information (count: 1086 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1086 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565105722	chr2:133836021-133836022	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532370024	chr2:133836033-133836034	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547581299	chr2:133836040-133836041	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565974370	chr2:133836057-133836058	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115149878	chr2:133836063-133836064	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375679075	chr2:133836064-133836065	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183133223	chr2:133836074-133836075	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13404423	chr2:133836111-133836112	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187881272	chr2:133836166-133836167	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368545053	chr2:133836168-133836169	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7564815	chr2:133836171-133836172	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538860551	chr2:133836196-133836197	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192652152	chr2:133836212-133836213	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185585793	chr2:133836243-133836244	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148263345	chr2:133836261-133836262	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113095271	chr2:133836309-133836310	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536260785	chr2:133836444-133836445	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113459485	chr2:133836494-133836495	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114916822	chr2:133836503-133836504	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564990018	chr2:133836524-133836525	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79647273	chr2:133836527-133836528	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150765455	chr2:133836528-133836529	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548245422	chr2:133836549-133836550	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189346829	chr2:133836630-133836631	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537204351	chr2:133836640-133836641	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548174552	chr2:133836660-133836661	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139248554	chr2:133836749-133836750	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142445131	chr2:133836831-133836832	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549728415	chr2:133836859-133836860	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571414577	chr2:133836873-133836874	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369726650	chr2:133836904-133836905	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35272366	chr2:133836909-133836910	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540947159	chr2:133836942-133836943	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145956900	chr2:133836975-133836976	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538700513	chr2:133836986-133836987	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554391235	chr2:133836993-133836994	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566131310	chr2:133837010-133837011	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116269089	chr2:133837042-133837043	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554986063	chr2:133837076-133837077	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72842442	chr2:133837102-133837103	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60851656	chr2:133837128-133837129	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558541928	chr2:133837210-133837211	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577062855	chr2:133837304-133837305	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559146701	chr2:133837342-133837343	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75455323	chr2:133837364-133837365	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535275558	chr2:133837382-133837383	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57257550	chr2:133837408-133837409	Strong transcription Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541978261	chr2:133837411-133837412	Strong transcription Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367630887	chr2:133837415-133837416	Strong transcription Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372172327	chr2:133837419-133837420	Strong transcription Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133831600-133855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133834000-133837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133834200-133836400	Enhancers	Fetal Brain Male	brain
4	chr2:133834400-133836400	Enhancers	Fetal Stomach	stomach
5	chr2:133835400-133836200	Enhancers	Ovary	ovary
6	chr2:133835600-133836200	Enhancers	Placenta	Placenta
7	chr2:133835800-133836600	Enhancers	Fetal Lung	lung
8	chr2:133835800-133840000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:133836200-133855200	Weak transcription	Ovary	ovary
10	chr2:133836400-133837000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:133836400-133838200	Weak transcription	Fetal Brain Male	brain
12	chr2:133836600-133838000	Weak transcription	Fetal Lung	lung
13	chr2:133836600-133838200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:133837000-133837400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:133837000-133838600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:133837400-133837800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:133837800-133838400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:133837800-133839800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:133838000-133838600	Enhancers	Fetal Lung	lung
20	chr2:133838200-133838600	Enhancers	Fetal Brain Male	brain
21	chr2:133838600-133838800	Enhancers	Brain Hippocampus Middle	brain
22	chr2:133839800-133843600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:133840000-133841000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:133841000-133854600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:133843600-133845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:133844600-133845600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:133845400-133851600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:133845600-133848200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:133847000-133859200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:133848200-133848600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:133848200-133849000	Enhancers	NHDF-Ad	bronchial
32	chr2:133848400-133848600	Enhancers	Right Ventricle	heart
33	chr2:133848600-133854600	Weak transcription	Right Ventricle	heart
34	chr2:133849000-133849800	Weak transcription	NHDF-Ad	bronchial
35	chr2:133849800-133850600	Enhancers	NHDF-Ad	bronchial
36	chr2:133850000-133850600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:133850600-133855000	Weak transcription	NHDF-Ad	bronchial
38	chr2:133851600-133854600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133853000-133867400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:133854600-133854800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:133854600-133854800	Enhancers	Left Ventricle	heart
42	chr2:133854600-133854800	Enhancers	Right Ventricle	heart
43	chr2:133854600-133865000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:133854800-133855200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:133854800-133892000	Weak transcription	Left Ventricle	heart
46	chr2:133855000-133855400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:133855000-133855400	Enhancers	NHDF-Ad	bronchial
48	chr2:133855200-133855400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:133855200-133855400	Enhancers	Ovary	ovary
50	chr2:133855200-133855600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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