Variant report

Variant	nsv582064
Chromosome Location	chr2:57304613-57397237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
2	chr2:56409694..56412486-chr2:57365790..57369711,3	MCF-7	breast:
3	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
4	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
5	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
6	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
7	chr2:57334344..57336154-chr2:57336415..57339096,2	K562	blood:
8	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
9	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
10	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
11	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233251	chromatin interactions
ENSG00000055813	chromatin interactions

Extended variants
information (count: 877 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1863047	chr2:57304613-57304614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567310417	chr2:57304621-57304622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529597382	chr2:57304624-57304625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549440770	chr2:57304641-57304642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1863048	chr2:57304659-57304660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150580430	chr2:57304661-57304662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551102591	chr2:57304682-57304683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140544247	chr2:57304713-57304714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574673712	chr2:57304739-57304740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180781969	chr2:57304773-57304774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563481612	chr2:57304810-57304811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553742944	chr2:57304821-57304822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369957461	chr2:57304843-57304844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573724494	chr2:57304855-57304856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542877238	chr2:57304871-57304872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113290328	chr2:57304885-57304886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185231989	chr2:57304928-57304929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576143682	chr2:57304938-57304939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142795388	chr2:57304947-57304948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11125691	chr2:57304949-57304950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7584448	chr2:57304963-57304964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552295134	chr2:57304971-57304972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116400696	chr2:57305037-57305038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529679230	chr2:57305045-57305046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549617960	chr2:57305053-57305054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190095675	chr2:57305160-57305161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528074002	chr2:57305183-57305184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369201280	chr2:57305207-57305208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531889559	chr2:57305227-57305228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372964955	chr2:57305239-57305240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551680890	chr2:57305247-57305248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147493252	chr2:57305269-57305270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183290028	chr2:57305279-57305280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553867904	chr2:57305285-57305286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548053207	chr2:57305287-57305288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547904314	chr2:57305293-57305294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373861501	chr2:57305296-57305297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567285584	chr2:57305315-57305316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11691347	chr2:57305317-57305318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556376263	chr2:57305320-57305321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569861626	chr2:57305352-57305353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371306707	chr2:57305377-57305378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373192420	chr2:57305382-57305383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188218635	chr2:57305409-57305410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs718351	chr2:57305425-57305426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536931225	chr2:57305434-57305435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77933802	chr2:57305475-57305476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191947357	chr2:57305478-57305479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527803102	chr2:57305510-57305511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1364527	chr2:57305521-57305522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:57306800-57307400	Enhancers	A549	lung
3	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
6	chr2:57332400-57332600	Enhancers	Liver	Liver
7	chr2:57332800-57334000	Weak transcription	Liver	Liver
8	chr2:57333600-57334600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:57334000-57335200	Enhancers	Liver	Liver
10	chr2:57334600-57334800	Enhancers	Fetal Intestine Large	intestine
11	chr2:57343800-57344400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:57353800-57354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:57367800-57369200	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:57390400-57392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:57395400-57396200	Enhancers	Muscle Satellite Cultured Cells	--

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