Variant report

Variant	esv3432717
Chromosome Location	chr2:30524116-30524375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573114071	chr2:30524180-30524181	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535275943	chr2:30524210-30524211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs376378740	chr2:30524218-30524219	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555660591	chr2:30524242-30524243	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115087138	chr2:30524261-30524262	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544460390	chr2:30524269-30524270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs906869	chr2:30524273-30524274	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537703848	chr2:30524276-30524277	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577568723	chr2:30524286-30524287	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566947165	chr2:30524295-30524296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554243658	chr2:30524299-30524300	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376576396	chr2:30524308-30524309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191492611	chr2:30524312-30524313	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs529519763	chr2:30524345-30524346	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182279948	chr2:30524356-30524357	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
2	chr2:30516800-30524200	Weak transcription	Lung	lung
3	chr2:30518200-30524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:30522200-30524200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:30522200-30524400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:30522600-30524400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:30522600-30524400	Weak transcription	Esophagus	oesophagus
8	chr2:30522600-30524600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:30522600-30524600	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:30522600-30524800	Enhancers	Left Ventricle	heart
11	chr2:30522600-30525000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:30522600-30525000	Enhancers	Fetal Stomach	stomach
13	chr2:30522600-30525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:30522600-30525400	Enhancers	NHDF-Ad	bronchial
15	chr2:30522600-30525600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:30522600-30525800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:30522800-30524200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30522800-30524200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:30522800-30524600	Enhancers	Ovary	ovary
22	chr2:30522800-30524600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:30522800-30524800	Enhancers	Fetal Lung	lung
24	chr2:30522800-30525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:30522800-30525000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:30522800-30525200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:30522800-30525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:30522800-30525200	Enhancers	NH-A	brain
29	chr2:30522800-30525800	Enhancers	NHLF	lung
30	chr2:30522800-30526000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:30522800-30526200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:30523000-30524200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:30523000-30524600	Enhancers	Pancreas	Pancrea
34	chr2:30523000-30525200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:30523000-30525200	Enhancers	Fetal Thymus	thymus
36	chr2:30523000-30526000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:30523200-30524200	Weak transcription	Placenta	Placenta
38	chr2:30523200-30524400	Enhancers	Fetal Muscle Leg	muscle
39	chr2:30523200-30524600	Flanking Active TSS	A549	lung
40	chr2:30523200-30524800	Enhancers	HSMM	muscle
41	chr2:30523200-30525000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:30523400-30524600	Enhancers	Fetal Intestine Small	intestine
43	chr2:30523400-30525800	Enhancers	HSMMtube	muscle
44	chr2:30523400-30528000	Weak transcription	K562	blood
45	chr2:30523600-30524600	Enhancers	Colon Smooth Muscle	Colon
46	chr2:30523600-30524800	Weak transcription	Thymus	Thymus
47	chr2:30523600-30526200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:30523600-30526600	Weak transcription	Aorta	Aorta
49	chr2:30523800-30524200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:30523800-30524400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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