Variant report

Variant	nsv963875
Chromosome Location	chr2:53173006-53196302
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	chr2:53048846..53049807-chr2:53183875..53184416,2	MCF-7	breast:

Extended variants
information (count: 578 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148568664	chr2:53174605-53174606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183843437	chr2:53174628-53174629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563868608	chr2:53174633-53174634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142096007	chr2:53174676-53174677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150750941	chr2:53174698-53174699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138983668	chr2:53174789-53174790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567539966	chr2:53175424-53175425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34559527	chr2:53175425-53175426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536679861	chr2:53175435-53175436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560690510	chr2:53175467-53175468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543465385	chr2:53175481-53175482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370027302	chr2:53175505-53175506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369933930	chr2:53175528-53175529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190563317	chr2:53175534-53175535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148883206	chr2:53175538-53175539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182219902	chr2:53175594-53175595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563542258	chr2:53175617-53175618	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs143686671	chr2:53175633-53175634	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs528168838	chr2:53175644-53175645	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs533640768	chr2:53175649-53175650	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553865975	chr2:53175653-53175654	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs12474068	chr2:53175654-53175655	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376309260	chr2:53175676-53175677	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs185766749	chr2:53175679-53175680	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs561718138	chr2:53175683-53175684	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs73931754	chr2:53175693-53175694	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs367957053	chr2:53175709-53175710	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs78471651	chr2:53175765-53175766	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs76512531	chr2:53175787-53175788	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116550945	chr2:53175799-53175800	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs528779278	chr2:53176832-53176833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548641493	chr2:53176842-53176843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145903728	chr2:53176861-53176862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531159393	chr2:53176879-53176880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543775587	chr2:53176886-53176887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569737123	chr2:53176899-53176900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538751097	chr2:53176900-53176901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186066657	chr2:53176916-53176917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191118339	chr2:53176950-53176951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534907442	chr2:53177005-53177006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114837196	chr2:53177008-53177009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183706747	chr2:53177047-53177048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138255172	chr2:53177052-53177053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533038918	chr2:53177067-53177068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556753685	chr2:53177090-53177091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546531077	chr2:53177096-53177097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554678226	chr2:53177144-53177145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574602027	chr2:53177182-53177183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546027688	chr2:53177185-53177186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113115597	chr2:53177194-53177195	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53174600-53174800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:53175400-53175600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:53175600-53175800	Bivalent Enhancer	Esophagus	oesophagus
4	chr2:53176800-53177600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:53177000-53177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:53177200-53177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:53179400-53179600	Enhancers	Gastric	stomach
8	chr2:53184000-53185200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:53184400-53185400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:53184800-53185200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:53185200-53187600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:53185400-53185800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:53185800-53194000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:53187600-53188200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:53188200-53188600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:53188600-53193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:53191800-53192400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:53191800-53192600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:53191800-53192600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:53191800-53192600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:53191800-53192800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:53192000-53192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:53192000-53192600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:53192000-53192600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:53192000-53192600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:53192200-53192800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:53195800-53199200	Weak transcription	Right Atrium	heart

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