Variant report

Variant	nsv1004528
Chromosome Location	chr2:57078722-57182354
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	chr2:57125151..57127960-chr2:57127962..57130049,3	K562	blood:
3	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
4	chr2:57035108..57036803-chr2:57124744..57126282,2	K562	blood:
5	chr2:57078712..57081570-chr2:57085174..57087217,2	MCF-7	breast:
6	chr2:57140755..57141275-chr7:78397919..78398439,2	MCF-7	breast:

Extended variants
information (count: 337 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:337 , 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	rs538302692	chr2:57078746-57078747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141208081	chr2:57078761-57078762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115080728	chr2:57078822-57078823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536619123	chr2:57078847-57078848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556260279	chr2:57078850-57078851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576513561	chr2:57078858-57078859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193180449	chr2:57078859-57078860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370856977	chr2:57078883-57078884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12616913	chr2:57078884-57078885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs368672966	chr2:57078931-57078932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571865202	chr2:57078945-57078946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146942807	chr2:57079001-57079002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12623476	chr2:57079067-57079068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574118783	chr2:57079068-57079069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115090465	chr2:57079125-57079126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541107266	chr2:57079135-57079136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567864122	chr2:57079146-57079147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550159186	chr2:57079841-57079842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115765368	chr2:57079906-57079907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538906798	chr2:57079938-57079939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553352196	chr2:57079961-57079962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552277830	chr2:57079991-57079992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565866928	chr2:57079998-57079999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534778910	chr2:57080018-57080019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554384553	chr2:57080019-57080020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201047809	chr2:57080056-57080057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374981683	chr2:57080091-57080092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189929534	chr2:57080174-57080175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556941309	chr2:57080186-57080187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13385244	chr2:57080208-57080209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576793456	chr2:57080244-57080245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545841785	chr2:57080254-57080255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552987419	chr2:57080303-57080304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141763256	chr2:57080307-57080308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541941810	chr2:57080314-57080315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10167375	chr2:57080338-57080339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565908695	chr2:57080348-57080349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565393060	chr2:57080407-57080408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116589225	chr2:57080570-57080571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36125200	chr2:57080613-57080614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532820772	chr2:57080627-57080628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554755553	chr2:57080630-57080631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552190026	chr2:57080633-57080634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181730291	chr2:57080690-57080691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528609921	chr2:57080692-57080693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548231341	chr2:57080698-57080699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57783089	chr2:57080715-57080716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535956454	chr2:57080717-57080718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554313015	chr2:57080743-57080744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570688689	chr2:57080749-57080750	Weak transcription	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57078600-57079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:57079800-57080000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
3	chr2:57080000-57081400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:57098200-57098600	Enhancers	NHEK	skin
5	chr2:57101000-57104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:57102000-57102800	Enhancers	Spleen	Spleen
7	chr2:57132800-57133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:57132800-57133200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:57145800-57146200	Enhancers	Aorta	Aorta
10	chr2:57161600-57162600	Enhancers	Fetal Brain Female	brain
11	chr2:57162400-57162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:57164400-57165000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:57164400-57165000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:57164400-57165000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:57165600-57166000	Enhancers	Fetal Brain Male	brain
16	chr2:57166800-57167000	Enhancers	HUES64 Cell Line	embryonic stem cell

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