Variant report

Variant	esv3374747
Chromosome Location	chr2:133291382-133309780
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133304031..133305145-chr2:133928594..133929580,6	MCF-7	breast:
2	chr2:133304762..133308062-chr2:133425978..133429369,3	MCF-7	breast:
3	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:
4	chr2:133304368..133305326-chr2:134601553..134602523,5	K562	blood:
5	chr2:133308087..133308889-chr2:133339718..133340292,2	MCF-7	breast:
6	chr2:133304876..133306446-chr2:133426520..133428307,2	MCF-7	breast:
7	chr2:133304353..133304857-chr2:134601593..134602264,2	MCF-7	breast:
8	chr2:133304640..133305382-chr2:133928983..133929651,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150551	chromatin interactions

Extended variants
information (count: 783 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369239463	chr2:133291435-133291436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150643097	chr2:133291461-133291462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188219589	chr2:133291477-133291478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567543314	chr2:133291480-133291481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538103644	chr2:133291481-133291482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556450293	chr2:133291534-133291535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571649084	chr2:133291550-133291551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538253601	chr2:133291562-133291563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192769116	chr2:133291563-133291564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6740534	chr2:133291570-133291571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542728041	chr2:133291616-133291617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554757698	chr2:133291621-133291622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576311562	chr2:133291675-133291676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188950363	chr2:133291676-133291677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181660046	chr2:133291678-133291679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565173173	chr2:133291694-133291695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532462499	chr2:133291736-133291737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545055640	chr2:133291747-133291748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34737665	chr2:133291752-133291753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527758337	chr2:133291848-133291849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200812085	chr2:133291856-133291857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184763053	chr2:133291961-133291962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199526173	chr2:133291982-133291983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189488514	chr2:133291995-133291996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531780217	chr2:133292005-133292006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180891951	chr2:133292058-133292059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71413508	chr2:133292069-133292070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71413509	chr2:133292075-133292076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71413510	chr2:133292114-133292115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565672710	chr2:133292149-133292150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567294383	chr2:133292156-133292157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71413511	chr2:133292171-133292172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186120961	chr2:133292175-133292176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576249652	chr2:133292178-133292179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376930396	chr2:133292213-133292214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71413512	chr2:133292214-133292215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558820120	chr2:133292237-133292238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577031898	chr2:133292240-133292241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13031823	chr2:133292276-133292277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71338126	chr2:133292303-133292304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7368541	chr2:133292304-133292305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13014966	chr2:133292321-133292322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13393969	chr2:133292323-133292324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13014973	chr2:133292333-133292334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13014991	chr2:133292354-133292355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542653907	chr2:133292358-133292359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561044464	chr2:133292399-133292400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7368544	chr2:133292400-133292401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549947731	chr2:133292401-133292402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371661614	chr2:133292407-133292408	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133295600-133297400	Enhancers	Fetal Heart	heart
3	chr2:133295800-133296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:133295800-133296400	Enhancers	Placenta	Placenta
5	chr2:133295800-133296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:133295800-133297000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr2:133296000-133296600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:133296000-133296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:133296000-133299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:133296400-133296600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr2:133296400-133296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:133296600-133300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:133296600-133301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:133296800-133297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:133297200-133298200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:133297400-133297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:133297400-133301000	Weak transcription	Gastric	stomach
18	chr2:133297800-133298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:133297800-133299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:133299000-133303400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:133299200-133302800	Enhancers	Placenta	Placenta
22	chr2:133299600-133300600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:133300200-133302000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:133300400-133301000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:133300400-133301000	Enhancers	A549	lung
26	chr2:133300400-133301200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:133300400-133301400	Enhancers	HMEC	breast
28	chr2:133300400-133301400	ZNF genes & repeats	NHEK	skin
29	chr2:133300400-133302400	ZNF genes & repeats	Liver	Liver
30	chr2:133300600-133301200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:133300600-133301200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:133300600-133302600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:133300800-133302000	Enhancers	Stomach Mucosa	stomach
34	chr2:133301000-133301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:133301000-133301400	Enhancers	Gastric	stomach
36	chr2:133301200-133301600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:133301200-133303000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:133301400-133301800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:133301400-133302000	Weak transcription	Gastric	stomach
40	chr2:133301400-133302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:133301600-133308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:133302000-133302400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:133302000-133302400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:133302000-133302800	ZNF genes & repeats	Fetal Brain Female	brain
45	chr2:133302400-133302800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:133302400-133302800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:133302400-133321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:133302800-133306800	Weak transcription	Fetal Brain Female	brain
49	chr2:133303000-133307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:133304800-133305200	Enhancers	Brain Germinal Matrix	brain

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