Variant report

Variant	esv3364595
Chromosome Location	chr2:20363371-20367169
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20364500..20366851-chr2:20367517..20369898,2	MCF-7	breast:
2	chr2:20362106..20364188-chr2:20366369..20369040,2	MCF-7	breast:
3	chr2:20364027..20368295-chr2:20377113..20381748,5	MCF-7	breast:
4	chr2:20364604..20368497-chr2:20376297..20379611,4	MCF-7	breast:
5	chr2:20362106..20364188-chr2:20366369..20369040,2	MCF-7	breast:
6	chr2:20357867..20361312-chr2:20362237..20365220,4	MCF-7	breast:
7	chr2:20366533..20369508-chr2:20380029..20382114,2	MCF-7	breast:
8	chr2:20365445..20367731-chr2:20374746..20377053,2	MCF-7	breast:
9	chr2:20366147..20368368-chr2:20415586..20417297,2	MCF-7	breast:
10	chr2:20357950..20360555-chr2:20362622..20364914,3	MCF-7	breast:
11	chr2:20357663..20359639-chr2:20362711..20364978,2	K562	blood:
12	chr2:20364675..20367244-chr2:20367416..20369596,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266059	chromatin interactions
ENSG00000200763	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539311670	chr2:20363371-20363372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73919283	chr2:20363405-20363406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575580152	chr2:20363482-20363483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547510490	chr2:20363486-20363487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188514849	chr2:20363505-20363506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561385091	chr2:20363593-20363594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574959371	chr2:20363644-20363645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35135293	chr2:20363666-20363667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146229724	chr2:20363709-20363710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181085453	chr2:20363727-20363728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552641360	chr2:20363752-20363753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139353912	chr2:20363799-20363800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531239602	chr2:20363821-20363822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185976743	chr2:20363834-20363835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567834099	chr2:20363842-20363843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190884747	chr2:20363850-20363851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527337168	chr2:20363865-20363866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547196094	chr2:20363881-20363882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570592435	chr2:20363964-20363965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367858282	chr2:20363993-20363994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142655611	chr2:20364073-20364074	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs556221493	chr2:20364080-20364081	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146040854	chr2:20364132-20364133	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs183946567	chr2:20364133-20364134	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs556641321	chr2:20364139-20364140	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs538266878	chr2:20364154-20364155	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs554957151	chr2:20364173-20364174	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs540771266	chr2:20364236-20364237	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs148606534	chr2:20364263-20364264	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs16981976	chr2:20364278-20364279	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565820101	chr2:20364285-20364286	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs116492871	chr2:20364294-20364295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs142047044	chr2:20364299-20364300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs541426772	chr2:20364302-20364303	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs117105709	chr2:20364342-20364343	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs527279595	chr2:20364345-20364346	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs139072415	chr2:20364351-20364352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs570515467	chr2:20364382-20364383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs145131890	chr2:20364384-20364385	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs62109686	chr2:20364393-20364394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs533655207	chr2:20364416-20364417	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs569970854	chr2:20364447-20364448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs535709631	chr2:20364481-20364482	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs555691416	chr2:20364482-20364483	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs553790730	chr2:20364483-20364484	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs534161692	chr2:20364512-20364513	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs554009083	chr2:20364535-20364536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs372345603	chr2:20364544-20364545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs375590252	chr2:20364563-20364564	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	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

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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20351200-20363800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:20354200-20366800	Weak transcription	Placenta	Placenta
4	chr2:20357200-20364400	Weak transcription	Pancreas	Pancrea
5	chr2:20357600-20364400	Weak transcription	Fetal Kidney	kidney
6	chr2:20357600-20364400	Weak transcription	NHDF-Ad	bronchial
7	chr2:20357600-20365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:20357800-20366600	Weak transcription	Stomach Mucosa	stomach
9	chr2:20358400-20363800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:20362400-20371400	Weak transcription	Right Atrium	heart
11	chr2:20362800-20364400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20363600-20364200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:20363800-20364200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:20363800-20364400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:20363800-20364400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:20363800-20364600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:20363800-20364600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:20363800-20364600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:20363800-20374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:20364000-20364400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr2:20364000-20364600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:20364000-20364600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:20364000-20366000	Enhancers	Gastric	stomach
24	chr2:20364000-20367800	Enhancers	A549	lung
25	chr2:20364000-20368000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20364200-20364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:20364200-20364400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:20364200-20365800	Enhancers	Lung	lung
29	chr2:20364200-20366000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:20364200-20366400	Enhancers	HepG2	liver
31	chr2:20364200-20368000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20364200-20369200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:20364400-20364600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:20364400-20364600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:20364400-20364600	Enhancers	Fetal Lung	lung
36	chr2:20364400-20364800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:20364400-20364800	Enhancers	Esophagus	oesophagus
38	chr2:20364400-20364800	Enhancers	Right Ventricle	heart
39	chr2:20364400-20364800	Enhancers	Spleen	Spleen
40	chr2:20364400-20365000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:20364400-20365000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:20364400-20365200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr2:20364400-20365400	Bivalent Enhancer	K562	blood
44	chr2:20364400-20365800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:20364400-20365800	Genic enhancers	Pancreas	Pancrea
46	chr2:20364400-20366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:20364400-20366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:20364400-20366000	ZNF genes & repeats	Fetal Kidney	kidney
49	chr2:20364400-20367400	Enhancers	GM12878-XiMat	blood
50	chr2:20364400-20367400	Enhancers	NHDF-Ad	bronchial

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