Variant report

Variant	nsv583168
Chromosome Location	chr2:133905985-133933462
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133428080..133428797-chr2:133928852..133929367,2	MCF-7	breast:
2	chr2:133304031..133305145-chr2:133928594..133929580,6	MCF-7	breast:
3	chr2:133907650..133909821-chr2:133911613..133914505,3	MCF-7	breast:
4	chr2:133304640..133305382-chr2:133928983..133929651,2	MCF-7	breast:
5	chr2:133922662..133923182-chr20:49410946..49412118,12	MCF-7	breast:
6	chr2:133907650..133909821-chr2:133911613..133914505,3	MCF-7	breast:
7	chr2:133932748..133934866-chr2:133936195..133938875,2	MCF-7	breast:
8	chr2:133106208..133106974-chr2:133928762..133929385,2	MCF-7	breast:
9	chr2:133426257..133428194-chr2:133927974..133930516,2	MCF-7	breast:
10	chr2:133427423..133430466-chr2:133927227..133930556,4	MCF-7	breast:
11	chr2:133922662..133923182-chr20:49410992..49411888,4	MCF-7	breast:
12	chr2:133408307..133409298-chr2:133928740..133929575,3	MCF-7	breast:
13	chr2:133434344..133435258-chr2:133928761..133929306,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150551	chromatin interactions
ENSG00000124243	chromatin interactions

Extended variants
information (count: 1052 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1052 , 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	rs1368970	chr2:133905985-133905986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554071637	chr2:133905992-133905993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183629390	chr2:133905996-133905997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572202761	chr2:133906055-133906056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188290162	chr2:133906068-133906069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542583390	chr2:133906156-133906157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544786455	chr2:133906234-133906235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554830486	chr2:133906292-133906293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576220558	chr2:133906377-133906378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572782212	chr2:133906383-133906384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539885604	chr2:133906478-133906479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555434576	chr2:133906480-133906481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544636720	chr2:133906482-133906483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562823299	chr2:133906515-133906516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181154287	chr2:133906546-133906547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57453854	chr2:133906559-133906560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545511365	chr2:133906568-133906569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560717138	chr2:133906765-133906766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13395240	chr2:133906773-133906774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549445229	chr2:133906802-133906803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17793104	chr2:133906887-133906888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs570145603	chr2:133906931-133906932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16857341	chr2:133906942-133906943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142220886	chr2:133906996-133906997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533185639	chr2:133907003-133907004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538392153	chr2:133907004-133907005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7605672	chr2:133907022-133907023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75781506	chr2:133907043-133907044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150790057	chr2:133907072-133907073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536459510	chr2:133907081-133907082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186393096	chr2:133907085-133907086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554437033	chr2:133907096-133907097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13395452	chr2:133907137-133907138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12468373	chr2:133907141-133907142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs17793177	chr2:133907151-133907152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370602835	chr2:133907152-133907153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549155549	chr2:133907163-133907164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578069505	chr2:133907175-133907176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545550047	chr2:133907185-133907186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190189881	chr2:133907186-133907187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560147924	chr2:133907236-133907237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181850156	chr2:133907257-133907258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561279723	chr2:133907285-133907286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187382006	chr2:133907368-133907369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553781043	chr2:133907369-133907370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550057678	chr2:133907424-133907425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377407706	chr2:133907432-133907433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564565758	chr2:133907485-133907486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570497659	chr2:133907493-133907494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531965277	chr2:133907530-133907531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133887800-133912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133900200-133908200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133904400-133913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:133906800-133907400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:133908200-133909200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133909200-133910600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:133910200-133911400	Enhancers	Liver	Liver
8	chr2:133910600-133911800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:133910600-133923000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:133911400-133914800	Weak transcription	Liver	Liver
11	chr2:133911800-133920600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:133912000-133913000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:133912600-133912800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:133912800-133917000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:133912800-133922600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:133914800-133915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:133914800-133917400	Enhancers	Liver	Liver
18	chr2:133915200-133916400	Enhancers	HepG2	liver
19	chr2:133917000-133917200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:133917200-133919200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:133920600-133921600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:133921600-133923600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:133922000-133923200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:133922600-133924800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:133923000-133924600	Enhancers	Osteobl	bone
26	chr2:133923000-133924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:133923200-133923400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:133923400-133923800	Enhancers	NHDF-Ad	bronchial
29	chr2:133923600-133924200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:133923600-133924400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:133923600-133937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:133923800-133924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:133923800-133924600	Weak transcription	NHDF-Ad	bronchial
34	chr2:133924600-133924800	Enhancers	NHDF-Ad	bronchial
35	chr2:133924600-133925400	Weak transcription	Osteobl	bone
36	chr2:133924800-133926000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:133924800-133932400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:133925400-133925600	Enhancers	Osteobl	bone
39	chr2:133925600-133932400	Weak transcription	Osteobl	bone
40	chr2:133926000-133928000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:133926400-133927200	Enhancers	Fetal Brain Male	brain
42	chr2:133927200-133928000	Enhancers	Pancreas	Pancrea
43	chr2:133927200-133931000	Weak transcription	Fetal Brain Male	brain
44	chr2:133927800-133928000	Enhancers	A549	lung
45	chr2:133927800-133928400	Enhancers	Brain Substantia Nigra	brain
46	chr2:133927800-133929000	Enhancers	Brain Anterior Caudate	brain
47	chr2:133928000-133929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:133928200-133931200	Weak transcription	A549	lung
49	chr2:133929000-133929400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:133929000-133931800	Weak transcription	Brain Anterior Caudate	brain

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