Variant report

Variant	esv3446962
Chromosome Location	chr2:21231647-21236245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:21227457..21230261-chr2:21231095..21233921,3	K562	blood:
2	chr2:21225502..21228297-chr2:21234763..21236459,2	K562	blood:
3	chr2:21224463..21226002-chr2:21230053..21232894,2	K562	blood:
4	chr2:21021241..21022914-chr2:21233687..21235914,2	K562	blood:
5	chr2:21224463..21227068-chr2:21229153..21232894,3	K562	blood:

Variant related genes	Relation type
ENSG00000118961	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370030727	chr2:21231667-21231668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373846203	chr2:21231693-21231694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375053331	chr2:21231695-21231696	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs1042013	chr2:21231701-21231702	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147562348	chr2:21231715-21231716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1042006	chr2:21231742-21231743	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199642915	chr2:21231751-21231752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142069954	chr2:21231775-21231776	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148987924	chr2:21231776-21231777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552447556	chr2:21231782-21231783	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562624518	chr2:21231790-21231791	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369023672	chr2:21231875-21231876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138497378	chr2:21231877-21231878	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531273434	chr2:21231887-21231888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143056106	chr2:21231897-21231898	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138790085	chr2:21231908-21231909	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548289925	chr2:21231964-21231965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375855688	chr2:21231981-21231982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370426974	chr2:21231989-21231990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200231583	chr2:21232011-21232012	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201152495	chr2:21232016-21232017	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150843941	chr2:21232019-21232020	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149306841	chr2:21232042-21232043	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1801696	chr2:21232044-21232045	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs72653094	chr2:21232060-21232061	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549476578	chr2:21232084-21232085	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147565300	chr2:21232092-21232093	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571626569	chr2:21232121-21232122	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148170480	chr2:21232125-21232126	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72653093	chr2:21232128-21232129	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146593015	chr2:21232137-21232138	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145143533	chr2:21232140-21232141	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149358359	chr2:21232149-21232150	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373272476	chr2:21232163-21232164	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377302171	chr2:21232165-21232166	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201712223	chr2:21232172-21232173	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs574531379	chr2:21232174-21232175	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs121918390	chr2:21232176-21232177	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs199852015	chr2:21232181-21232182	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs693	chr2:21232195-21232196	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
41	rs554045156	chr2:21232202-21232203	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146538280	chr2:21232203-21232204	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577437570	chr2:21232223-21232224	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548649083	chr2:21232239-21232240	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139698568	chr2:21232249-21232250	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546392030	chr2:21232268-21232269	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200783423	chr2:21232368-21232369	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12713675	chr2:21232373-21232374	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532531549	chr2:21232385-21232386	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576639442	chr2:21232394-21232395	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21222800-21234600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:21223200-21245600	Strong transcription	Liver	Liver
3	chr2:21225600-21236400	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr2:21229600-21232200	Strong transcription	HepG2	liver
5	chr2:21230400-21234000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:21230800-21235000	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr2:21231600-21232400	ZNF genes & repeats	Left Ventricle	heart
8	chr2:21231800-21232400	ZNF genes & repeats	Aorta	Aorta
9	chr2:21232000-21232400	Active TSS	Brain Substantia Nigra	brain
10	chr2:21232200-21235000	Genic enhancers	HepG2	liver
11	chr2:21232400-21233600	Weak transcription	Aorta	Aorta
12	chr2:21232400-21233800	Weak transcription	Left Ventricle	heart
13	chr2:21233400-21234800	Enhancers	Fetal Heart	heart
14	chr2:21233600-21235000	Enhancers	Right Atrium	heart
15	chr2:21233600-21235000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:21233600-21236200	ZNF genes & repeats	Aorta	Aorta
17	chr2:21233800-21234200	ZNF genes & repeats	Left Ventricle	heart
18	chr2:21233800-21235000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr2:21234000-21234200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:21234000-21235000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:21234200-21236000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:21234200-21240600	Weak transcription	Left Ventricle	heart
23	chr2:21234600-21234800	Enhancers	Ovary	ovary
24	chr2:21234600-21235000	Strong transcription	Adipose Nuclei	Adipose
25	chr2:21234800-21262200	Weak transcription	Ovary	ovary
26	chr2:21235000-21236800	Strong transcription	HepG2	liver
27	chr2:21235000-21240200	Weak transcription	Adipose Nuclei	Adipose
28	chr2:21235000-21246600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:21235000-21261800	Strong transcription	Fetal Intestine Large	intestine
30	chr2:21236000-21236200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:21236000-21236200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:21236200-21236600	Strong transcription	Aorta	Aorta

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