Variant report

Variant	nsv997281
Chromosome Location	chr2:53513396-53553384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
2	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 1036 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17044399	chr2:53513396-53513397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143523631	chr2:53513426-53513427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568167798	chr2:53513428-53513429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6724331	chr2:53513453-53513454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551633884	chr2:53513465-53513466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183910487	chr2:53513470-53513471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17044402	chr2:53513471-53513472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35236262	chr2:53513479-53513480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546224935	chr2:53513487-53513488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75906636	chr2:53513501-53513502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17044403	chr2:53513643-53513644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149668190	chr2:53513655-53513656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569017837	chr2:53513658-53513659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114437108	chr2:53513677-53513678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557657786	chr2:53513731-53513732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145601013	chr2:53513738-53513739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375378440	chr2:53513751-53513752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188866908	chr2:53513804-53513805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372461504	chr2:53513805-53513806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554279186	chr2:53513838-53513839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191899590	chr2:53513840-53513841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369224035	chr2:53513852-53513853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148485179	chr2:53513871-53513872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563198056	chr2:53513902-53513903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368086294	chr2:53513907-53513908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574554671	chr2:53513957-53513958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545626309	chr2:53513991-53513992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10202079	chr2:53514022-53514023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532893972	chr2:53514044-53514045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142724456	chr2:53514062-53514063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375130993	chr2:53514102-53514103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528868381	chr2:53514104-53514105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146479584	chr2:53514133-53514134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17044405	chr2:53514150-53514151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537732615	chr2:53514159-53514160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17044407	chr2:53514191-53514192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562019862	chr2:53514192-53514193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571489329	chr2:53514194-53514195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369162197	chr2:53514196-53514197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182916980	chr2:53514208-53514209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574132214	chr2:53514221-53514222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576762814	chr2:53514335-53514336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536695643	chr2:53514355-53514356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10210766	chr2:53514383-53514384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576709569	chr2:53514420-53514421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111767933	chr2:53514482-53514483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376767795	chr2:53514484-53514485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545356667	chr2:53514511-53514512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186975359	chr2:53514518-53514519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559576708	chr2:53514535-53514536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53502400-53516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:53511800-53516400	Weak transcription	Hela-S3	cervix
3	chr2:53511800-53516400	Weak transcription	HMEC	breast
4	chr2:53512000-53519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:53515600-53517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:53515800-53516400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:53515800-53516800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:53515800-53517400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:53516000-53517400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:53516000-53517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:53516400-53516800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:53516400-53516800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:53516400-53516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:53516400-53516800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:53516400-53516800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:53516400-53516800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:53516400-53517000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:53516400-53517000	Enhancers	Hela-S3	cervix
19	chr2:53516400-53517000	Enhancers	NHEK	skin
20	chr2:53516400-53517600	Enhancers	HMEC	breast
21	chr2:53516600-53517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:53516600-53517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:53517000-53517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:53519800-53520200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:53535400-53536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:53538200-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:53538200-53538800	Enhancers	HMEC	breast
28	chr2:53538400-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:53538400-53538800	Enhancers	NHEK	skin
30	chr2:53538400-53540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:53538400-53544000	Enhancers	Hela-S3	cervix
32	chr2:53538800-53541600	Enhancers	Pancreas	Pancrea
33	chr2:53539000-53539400	Weak transcription	NHEK	skin
34	chr2:53539000-53540400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:53540000-53540200	ZNF genes & repeats	NHEK	skin
36	chr2:53540200-53541400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:53540200-53542600	Enhancers	NHEK	skin
38	chr2:53540600-53542800	Enhancers	HMEC	breast
39	chr2:53541400-53542600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:53541600-53546400	Weak transcription	Pancreas	Pancrea
41	chr2:53541800-53542600	Enhancers	NH-A	brain
42	chr2:53542000-53542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:53542400-53543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:53542600-53543200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:53542600-53543400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:53542600-53543400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:53542600-53550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:53544000-53545000	Weak transcription	Hela-S3	cervix
49	chr2:53545000-53545600	Enhancers	Hela-S3	cervix
50	chr2:53546400-53546600	Enhancers	Pancreas	Pancrea

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