Variant report

Variant	nsv455852
Chromosome Location	chr2:21125742-21143329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:21134659..21137623-chr2:21141359..21143238,2	K562	blood:
2	chr2:21140498..21143464-chr2:21148972..21151684,2	K562	blood:
3	chr2:21134659..21137623-chr2:21141359..21143238,2	K562	blood:

Extended variants
information (count: 732 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4468779	chr2:21125742-21125743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545013468	chr2:21125755-21125756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201828198	chr2:21125776-21125777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192228442	chr2:21125780-21125781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145061087	chr2:21125799-21125800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188091403	chr2:21125836-21125837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7596102	chr2:21125848-21125849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529360793	chr2:21125865-21125866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549368518	chr2:21125878-21125879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565981126	chr2:21125879-21125880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528482938	chr2:21125946-21125947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547512635	chr2:21125956-21125957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551818105	chr2:21125965-21125966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571594970	chr2:21125970-21125971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147582249	chr2:21125974-21125975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557107301	chr2:21125978-21125979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180891240	chr2:21126031-21126032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535924167	chr2:21126047-21126048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73921326	chr2:21126067-21126068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532712835	chr2:21126115-21126116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140801101	chr2:21126137-21126138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112062398	chr2:21126168-21126169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544967186	chr2:21126204-21126205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542656861	chr2:21126213-21126214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575575300	chr2:21126256-21126257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544423899	chr2:21126257-21126258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184631654	chr2:21126259-21126260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149822457	chr2:21126280-21126281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116114780	chr2:21126281-21126282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569269932	chr2:21126287-21126288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559779426	chr2:21126318-21126319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528513456	chr2:21126400-21126401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551719638	chr2:21126412-21126413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72788533	chr2:21126423-21126424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189847979	chr2:21126447-21126448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531061707	chr2:21126473-21126474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538133689	chr2:21126497-21126498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148981702	chr2:21126552-21126553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143803633	chr2:21126558-21126559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181495239	chr2:21126664-21126665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138488062	chr2:21126705-21126706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566545689	chr2:21126717-21126718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538270064	chr2:21126724-21126725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558557759	chr2:21126776-21126777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75648098	chr2:21126779-21126780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370383253	chr2:21126785-21126786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186916747	chr2:21126803-21126804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574574156	chr2:21126812-21126813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540409593	chr2:21126849-21126850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12710746	chr2:21126859-21126860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21114200-21127800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:21120200-21128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:21128200-21128800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:21128400-21128600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:21128600-21129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:21128800-21129800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:21129600-21129800	Enhancers	HepG2	liver
8	chr2:21129600-21133000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:21129800-21130400	Weak transcription	HepG2	liver
10	chr2:21129800-21133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:21130000-21131600	Enhancers	HMEC	breast
12	chr2:21130000-21131800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:21130000-21135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:21130200-21131600	Enhancers	NHEK	skin
15	chr2:21130200-21133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:21130400-21130600	Enhancers	Stomach Smooth Muscle	stomach
17	chr2:21130400-21131000	Enhancers	HepG2	liver
18	chr2:21130400-21131400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:21130400-21131600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:21130400-21131600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:21130400-21131800	Enhancers	HSMMtube	muscle
22	chr2:21130600-21131000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:21130600-21131400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:21130600-21131400	Enhancers	Colon Smooth Muscle	Colon
25	chr2:21130600-21131400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:21130600-21131400	Enhancers	HSMM	muscle
27	chr2:21130600-21131400	Enhancers	NHDF-Ad	bronchial
28	chr2:21130600-21131600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:21130600-21131600	Enhancers	Osteobl	bone
30	chr2:21130600-21132200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:21130800-21131200	Enhancers	NH-A	brain
32	chr2:21130800-21131400	Enhancers	Ovary	ovary
33	chr2:21130800-21131600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:21130800-21132400	Enhancers	Spleen	Spleen
35	chr2:21131000-21131200	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:21131000-21131400	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:21131000-21131400	Enhancers	NHLF	lung
38	chr2:21131200-21132600	Enhancers	Fetal Heart	heart
39	chr2:21131200-21136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:21131400-21131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:21131400-21133000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:21131400-21133000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:21131400-21133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:21131400-21133400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:21131400-21134400	Weak transcription	Ovary	ovary
46	chr2:21131600-21133600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:21131600-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:21131600-21136600	Weak transcription	NHEK	skin
49	chr2:21131800-21137000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:21132200-21133800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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