Variant report

Variant	nsv1008323
Chromosome Location	chr2:53508208-53535998
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	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
2	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 619 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373845541	chr2:53508219-53508220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200821694	chr2:53508224-53508225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550012436	chr2:53508240-53508241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550204573	chr2:53508273-53508274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73936027	chr2:53508298-53508299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575192730	chr2:53508304-53508305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539402112	chr2:53508332-53508333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538134492	chr2:53508340-53508341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116329008	chr2:53508363-53508364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73936028	chr2:53508372-53508373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540018504	chr2:53508384-53508385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569911367	chr2:53508447-53508448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13392218	chr2:53508452-53508453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368624744	chr2:53508461-53508462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78222886	chr2:53508493-53508494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543088727	chr2:53508496-53508497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139353632	chr2:53508513-53508514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372082975	chr2:53508541-53508542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532075948	chr2:53508546-53508547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545665094	chr2:53508554-53508555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565414658	chr2:53508607-53508608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191099958	chr2:53508614-53508615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6761607	chr2:53508624-53508625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149617031	chr2:53508644-53508645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566234784	chr2:53508688-53508689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11678259	chr2:53508689-53508690	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs372057117	chr2:53508692-53508693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548609946	chr2:53508706-53508707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568498066	chr2:53508707-53508708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537414734	chr2:53508765-53508766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144481117	chr2:53508766-53508767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558047370	chr2:53508774-53508775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571410069	chr2:53508798-53508799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532296627	chr2:53508804-53508805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535039264	chr2:53508853-53508854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182803964	chr2:53508860-53508861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554003912	chr2:53508900-53508901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554494729	chr2:53508924-53508925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185779622	chr2:53508936-53508937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556620051	chr2:53508940-53508941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189655038	chr2:53508964-53508965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370453313	chr2:53508974-53508975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182324858	chr2:53509043-53509044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114048043	chr2:53509104-53509105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541658371	chr2:53509107-53509108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561137246	chr2:53509113-53509114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528988433	chr2:53509139-53509140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139575710	chr2:53509228-53509229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376043173	chr2:53509266-53509267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568577810	chr2:53509289-53509290	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:32 , 50 per page) page: 1

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

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