Variant report

Variant	esv3442957
Chromosome Location	chr2:21255559-21257877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569421396	chr2:21255562-21255563	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144004141	chr2:21255569-21255570	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184773841	chr2:21255572-21255573	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190024507	chr2:21255573-21255574	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199984809	chr2:21255574-21255575	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181691236	chr2:21255575-21255576	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533299454	chr2:21255593-21255594	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538517278	chr2:21255602-21255603	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150866453	chr2:21255637-21255638	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568667050	chr2:21255643-21255644	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139365873	chr2:21255694-21255695	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12720836	chr2:21255732-21255733	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12720835	chr2:21255733-21255734	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184507838	chr2:21255764-21255765	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556099974	chr2:21255777-21255778	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568814433	chr2:21255817-21255818	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188478702	chr2:21255837-21255838	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193235038	chr2:21255858-21255859	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12714226	chr2:21255948-21255949	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569678331	chr2:21255981-21255982	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368719674	chr2:21255983-21255984	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576038819	chr2:21256003-21256004	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571865054	chr2:21256007-21256008	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540340913	chr2:21256066-21256067	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72653062	chr2:21256136-21256137	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560352099	chr2:21256141-21256142	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370268044	chr2:21256142-21256143	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373672606	chr2:21256151-21256152	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200376021	chr2:21256153-21256154	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371993628	chr2:21256168-21256169	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377139608	chr2:21256181-21256182	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149227065	chr2:21256234-21256235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138999374	chr2:21256256-21256257	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13306200	chr2:21256284-21256285	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148126873	chr2:21256285-21256286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368194255	chr2:21256328-21256329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141888564	chr2:21256370-21256371	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199937544	chr2:21256381-21256382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1864423	chr2:21256387-21256388	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs72653061	chr2:21256405-21256406	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12720810	chr2:21256406-21256407	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12720811	chr2:21256413-21256414	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144474823	chr2:21256414-21256415	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371910271	chr2:21256427-21256428	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534354331	chr2:21256444-21256445	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547489512	chr2:21256463-21256464	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570479782	chr2:21256485-21256486	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78610189	chr2:21256489-21256490	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555923155	chr2:21256521-21256522	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191289803	chr2:21256536-21256537	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21234800-21262200	Weak transcription	Ovary	ovary
2	chr2:21235000-21261800	Strong transcription	Fetal Intestine Large	intestine
3	chr2:21252000-21256200	Weak transcription	Left Ventricle	heart
4	chr2:21254000-21256200	Strong transcription	Adipose Nuclei	Adipose
5	chr2:21254400-21262000	Strong transcription	Fetal Intestine Small	intestine
6	chr2:21255200-21256400	Strong transcription	Aorta	Aorta
7	chr2:21255200-21258200	Genic enhancers	Liver	Liver
8	chr2:21255200-21260600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:21255400-21256600	Genic enhancers	HepG2	liver
10	chr2:21255400-21262800	Weak transcription	Right Atrium	heart
11	chr2:21256200-21257200	Strong transcription	Left Ventricle	heart
12	chr2:21256200-21261400	Weak transcription	Adipose Nuclei	Adipose
13	chr2:21256400-21258400	Weak transcription	Aorta	Aorta
14	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
15	chr2:21257200-21260600	Weak transcription	Left Ventricle	heart

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