Variant report

Variant	nsv874143
Chromosome Location	chr2:53499062-53643093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53577427..53579726-chr2:53588539..53591253,2	K562	blood:
2	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
3	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
4	chr2:53577427..53579726-chr2:53588539..53591253,2	K562	blood:
5	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
6	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:

Extended variants
information (count: 4421 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:4421 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6756435	chr2:53499062-53499063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185531150	chr2:53499063-53499064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531755927	chr2:53499067-53499068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55763710	chr2:53499072-53499073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563451258	chr2:53499075-53499076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565310243	chr2:53499090-53499091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368517197	chr2:53499104-53499105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147408700	chr2:53499106-53499107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76508290	chr2:53499139-53499140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561437807	chr2:53499147-53499148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373359212	chr2:53499149-53499150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190292291	chr2:53499150-53499151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550155459	chr2:53499158-53499159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531006376	chr2:53499159-53499160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182271482	chr2:53499186-53499187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139699629	chr2:53499195-53499196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373282512	chr2:53499214-53499215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201233191	chr2:53499226-53499227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570984360	chr2:53499237-53499238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143902069	chr2:53499251-53499252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147284808	chr2:53499263-53499264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112009697	chr2:53499266-53499267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375802841	chr2:53499282-53499283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573858063	chr2:53499309-53499310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113071018	chr2:53499333-53499334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113466492	chr2:53499344-53499345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186148077	chr2:53499348-53499349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545544046	chr2:53499382-53499383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6731512	chr2:53499387-53499388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572537065	chr2:53499397-53499398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541074978	chr2:53499461-53499462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561332999	chr2:53499503-53499504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549438999	chr2:53499506-53499507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140672698	chr2:53499547-53499548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192214864	chr2:53499552-53499553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574095261	chr2:53499567-53499568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142274814	chr2:53499633-53499634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183696280	chr2:53499641-53499642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552321163	chr2:53499665-53499666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571020953	chr2:53499676-53499677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372907147	chr2:53499679-53499680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533598358	chr2:53499717-53499718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532536047	chr2:53499718-53499719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200970202	chr2:53499724-53499725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538455201	chr2:53499735-53499736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189134306	chr2:53499763-53499764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567243445	chr2:53499774-53499775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536185246	chr2:53499782-53499783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556398778	chr2:53499812-53499813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7595522	chr2:53499819-53499820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	22522925	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53496200-53511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53501600-53502000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:53501600-53502400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:53501600-53502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:53501800-53502200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:53501800-53502400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:53501800-53502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:53502000-53502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:53502000-53502400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:53502000-53502400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:53502000-53502400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:53502200-53502400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:53502200-53502600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:53502200-53503000	Enhancers	Dnd41	blood
15	chr2:53502400-53516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:53503200-53504200	Enhancers	Fetal Heart	heart
17	chr2:53510400-53511800	Enhancers	Hela-S3	cervix
18	chr2:53510600-53511800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:53511400-53511800	Enhancers	Fetal Heart	heart
20	chr2:53511400-53511800	Enhancers	HMEC	breast
21	chr2:53511600-53512000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:53511600-53512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:53511800-53516400	Weak transcription	Hela-S3	cervix
24	chr2:53511800-53516400	Weak transcription	HMEC	breast
25	chr2:53512000-53519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:53515600-53517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:53515800-53516400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:53515800-53516800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:53515800-53517400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:53516000-53517400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:53516000-53517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:53516400-53516800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:53516400-53516800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:53516400-53516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:53516400-53516800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:53516400-53516800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:53516400-53516800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:53516400-53517000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:53516400-53517000	Enhancers	Hela-S3	cervix
40	chr2:53516400-53517000	Enhancers	NHEK	skin
41	chr2:53516400-53517600	Enhancers	HMEC	breast
42	chr2:53516600-53517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:53516600-53517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:53517000-53517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:53519800-53520200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:53535400-53536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:53538200-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:53538200-53538800	Enhancers	HMEC	breast
49	chr2:53538400-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:53538400-53538800	Enhancers	NHEK	skin

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