Variant report

Variant	nsv535728
Chromosome Location	chr2:57059299-57126839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:57125151..57127960-chr2:57127962..57130049,3	K562	blood:
2	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
3	chr2:57048488..57050051-chr2:57058805..57060828,2	MCF-7	breast:
4	chr2:57069877..57070526-chr8:126036477..126036977,2	MCF-7	breast:
5	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
6	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:

Extended variants
information (count: 286 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2193631	chr2:57068616-57068617	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536804978	chr2:57068634-57068635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2904425	chr2:57068656-57068657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144496850	chr2:57068669-57068670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539315041	chr2:57068674-57068675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs3919559	chr2:57068693-57068694	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572392224	chr2:57068726-57068727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541210485	chr2:57068782-57068783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148421508	chr2:57068783-57068784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532085113	chr2:57073622-57073623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558406781	chr2:57073638-57073639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71411349	chr2:57073640-57073641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565740398	chr2:57073646-57073647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386646398	chr2:57073648-57073649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9753327	chr2:57073649-57073650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190549950	chr2:57073664-57073665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116863274	chr2:57073666-57073667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180716451	chr2:57073696-57073697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538987212	chr2:57073697-57073698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145623443	chr2:57073711-57073712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572528519	chr2:57073719-57073720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112678183	chr2:57073746-57073747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534776792	chr2:57073747-57073748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146639848	chr2:57073764-57073765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554382428	chr2:57073776-57073777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574289618	chr2:57073794-57073795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543315503	chr2:57073805-57073806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573998715	chr2:57073825-57073826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543013901	chr2:57073862-57073863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185096023	chr2:57073895-57073896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149213890	chr2:57073924-57073925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190003836	chr2:57073930-57073931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75004326	chr2:57073971-57073972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115654804	chr2:57074001-57074002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12478750	chr2:57074019-57074020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377559345	chr2:57074050-57074051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181255707	chr2:57074056-57074057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185617098	chr2:57074071-57074072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143367061	chr2:57074090-57074091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79984808	chr2:57074138-57074139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540196572	chr2:57074143-57074144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538938956	chr2:57074155-57074156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370971140	chr2:57074163-57074164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148348792	chr2:57074197-57074198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141500493	chr2:57074205-57074206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191761963	chr2:57074208-57074209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113343640	chr2:57074210-57074211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138708649	chr2:57074215-57074216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142708530	chr2:57074256-57074257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536815768	chr2:57074262-57074263	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57068600-57068800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:57073600-57074400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr2:57078600-57079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:57079800-57080000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
5	chr2:57080000-57081400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:57098200-57098600	Enhancers	NHEK	skin
7	chr2:57101000-57104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:57102000-57102800	Enhancers	Spleen	Spleen

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