Variant report

Variant	nsv874144
Chromosome Location	chr2:53510546-53561575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
2	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
3	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 1190 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6754620	chr2:53510546-53510547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527301894	chr2:53510553-53510554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552056914	chr2:53510560-53510561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547380361	chr2:53510659-53510660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561171061	chr2:53510733-53510734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140739617	chr2:53510757-53510758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386646174	chr2:53510760-53510761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530014845	chr2:53510761-53510762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550041119	chr2:53510766-53510767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562742409	chr2:53510782-53510783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569737660	chr2:53510785-53510786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539151452	chr2:53510808-53510809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367564974	chr2:53510810-53510811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552412508	chr2:53510827-53510828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73936030	chr2:53510831-53510832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534700931	chr2:53510853-53510854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534768542	chr2:53510877-53510878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11885326	chr2:53510921-53510922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79012923	chr2:53510924-53510925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537331614	chr2:53510929-53510930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557558198	chr2:53510937-53510938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577385987	chr2:53510953-53510954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548267547	chr2:53510961-53510962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17044392	chr2:53510962-53510963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183883145	chr2:53510966-53510967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376493402	chr2:53510967-53510968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537026245	chr2:53510973-53510974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557267055	chr2:53511011-53511012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577432544	chr2:53511058-53511059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541076079	chr2:53511063-53511064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71408712	chr2:53511092-53511093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560858824	chr2:53511098-53511099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200098752	chr2:53511103-53511104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200935225	chr2:53511104-53511105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112171091	chr2:53511106-53511107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547341915	chr2:53511112-53511113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201531156	chr2:53511113-53511114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202236070	chr2:53511123-53511124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146739875	chr2:53511124-53511125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374201618	chr2:53511125-53511126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543329625	chr2:53511206-53511207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114494281	chr2:53511279-53511280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532216073	chr2:53511295-53511296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117593772	chr2:53511343-53511344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72802855	chr2:53511388-53511389	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528554812	chr2:53511398-53511399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548209081	chr2:53511437-53511438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568089978	chr2:53511464-53511465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537016157	chr2:53511469-53511470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140252317	chr2:53511509-53511510	Weak transcription Enhancers	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53496200-53511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53502400-53516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:53510400-53511800	Enhancers	Hela-S3	cervix
4	chr2:53510600-53511800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:53511400-53511800	Enhancers	Fetal Heart	heart
6	chr2:53511400-53511800	Enhancers	HMEC	breast
7	chr2:53511600-53512000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:53511600-53512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:53511800-53516400	Weak transcription	Hela-S3	cervix
10	chr2:53511800-53516400	Weak transcription	HMEC	breast
11	chr2:53512000-53519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:53515600-53517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:53515800-53516400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:53515800-53516800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:53515800-53517400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:53516000-53517400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:53516000-53517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:53516400-53516800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:53516400-53516800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:53516400-53516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:53516400-53516800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:53516400-53516800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:53516400-53516800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:53516400-53517000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:53516400-53517000	Enhancers	Hela-S3	cervix
26	chr2:53516400-53517000	Enhancers	NHEK	skin
27	chr2:53516400-53517600	Enhancers	HMEC	breast
28	chr2:53516600-53517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:53516600-53517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:53517000-53517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:53519800-53520200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:53535400-53536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:53538200-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:53538200-53538800	Enhancers	HMEC	breast
35	chr2:53538400-53538800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:53538400-53538800	Enhancers	NHEK	skin
37	chr2:53538400-53540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:53538400-53544000	Enhancers	Hela-S3	cervix
39	chr2:53538800-53541600	Enhancers	Pancreas	Pancrea
40	chr2:53539000-53539400	Weak transcription	NHEK	skin
41	chr2:53539000-53540400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:53540000-53540200	ZNF genes & repeats	NHEK	skin
43	chr2:53540200-53541400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:53540200-53542600	Enhancers	NHEK	skin
45	chr2:53540600-53542800	Enhancers	HMEC	breast
46	chr2:53541400-53542600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:53541600-53546400	Weak transcription	Pancreas	Pancrea
48	chr2:53541800-53542600	Enhancers	NH-A	brain
49	chr2:53542000-53542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:53542400-53543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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