Variant report

Variant	esv3353437
Chromosome Location	chr2:20364568-20365043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20364500..20366851-chr2:20367517..20369898,2	MCF-7	breast:
2	chr2:20357867..20361312-chr2:20362237..20365220,4	MCF-7	breast:
3	chr2:20364604..20368497-chr2:20376297..20379611,4	MCF-7	breast:
4	chr2:20364675..20367244-chr2:20367416..20369596,2	K562	blood:
5	chr2:20364027..20368295-chr2:20377113..20381748,5	MCF-7	breast:
6	chr2:20357950..20360555-chr2:20362622..20364914,3	MCF-7	breast:
7	chr2:20357663..20359639-chr2:20362711..20364978,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201241551	chr2:20364592-20364593	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs577231247	chr2:20364649-20364650	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372422796	chr2:20364652-20364653	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111067216	chr2:20364653-20364654	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576335531	chr2:20364666-20364667	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200606905	chr2:20364675-20364676	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374787467	chr2:20364763-20364764	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369150246	chr2:20364766-20364767	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527325277	chr2:20364778-20364779	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540990507	chr2:20364781-20364782	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201577019	chr2:20364796-20364797	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564050327	chr2:20364802-20364803	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190210103	chr2:20364815-20364816	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528723896	chr2:20364822-20364823	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372144511	chr2:20364845-20364846	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532998720	chr2:20364887-20364888	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549720753	chr2:20364933-20364934	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199609430	chr2:20364978-20364979	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370645839	chr2:20364987-20364988	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20354200-20366800	Weak transcription	Placenta	Placenta
2	chr2:20357600-20365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20357800-20366600	Weak transcription	Stomach Mucosa	stomach
4	chr2:20362400-20371400	Weak transcription	Right Atrium	heart
5	chr2:20363800-20364600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:20363800-20364600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:20363800-20364600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:20363800-20374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:20364000-20364600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:20364000-20364600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:20364000-20366000	Enhancers	Gastric	stomach
12	chr2:20364000-20367800	Enhancers	A549	lung
13	chr2:20364000-20368000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:20364200-20365800	Enhancers	Lung	lung
15	chr2:20364200-20366000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:20364200-20366400	Enhancers	HepG2	liver
17	chr2:20364200-20368000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:20364200-20369200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:20364400-20364600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20364400-20364600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:20364400-20364600	Enhancers	Fetal Lung	lung
22	chr2:20364400-20364800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:20364400-20364800	Enhancers	Esophagus	oesophagus
24	chr2:20364400-20364800	Enhancers	Right Ventricle	heart
25	chr2:20364400-20364800	Enhancers	Spleen	Spleen
26	chr2:20364400-20365000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:20364400-20365000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:20364400-20365200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr2:20364400-20365400	Bivalent Enhancer	K562	blood
30	chr2:20364400-20365800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:20364400-20365800	Genic enhancers	Pancreas	Pancrea
32	chr2:20364400-20366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:20364400-20366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:20364400-20366000	ZNF genes & repeats	Fetal Kidney	kidney
35	chr2:20364400-20367400	Enhancers	GM12878-XiMat	blood
36	chr2:20364400-20367400	Enhancers	NHDF-Ad	bronchial
37	chr2:20364400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20364600-20364800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:20364600-20364800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr2:20364600-20365000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr2:20364600-20365000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:20364600-20365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:20364600-20365800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:20364600-20365800	Active TSS	Fetal Lung	lung
45	chr2:20364600-20366000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:20364600-20367600	Enhancers	HMEC	breast
47	chr2:20364800-20365000	Flanking Active TSS	Spleen	Spleen
48	chr2:20364800-20365600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:20364800-20366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:20364800-20366000	Weak transcription	Esophagus	oesophagus

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