Variant report

Variant	nsv581836
Chromosome Location	chr2:49975135-50011821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
2	chr2:49987705..49990073-chr2:50256678..50259583,2	K562	blood:
3	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
4	chr2:49997752..49998563-chr2:50629285..50629956,2	MCF-7	breast:

Extended variants
information (count: 366 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528338665	chr2:49976602-49976603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547387327	chr2:49976611-49976612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565694649	chr2:49976664-49976665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547054461	chr2:49976695-49976696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200562259	chr2:49976705-49976706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536235067	chr2:49976772-49976773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570253798	chr2:49976775-49976776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548709244	chr2:49976782-49976783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191023845	chr2:49976842-49976843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78361539	chr2:49976852-49976853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539270851	chr2:49976866-49976867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558849228	chr2:49976871-49976872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577633945	chr2:49976881-49976882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535290090	chr2:49976907-49976908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559180674	chr2:49976921-49976922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551598109	chr2:49976925-49976926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553014088	chr2:49976940-49976941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182740029	chr2:49977002-49977003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541458818	chr2:49977013-49977014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187428848	chr2:49977027-49977028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575236228	chr2:49977036-49977037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565671652	chr2:49977042-49977043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545997793	chr2:49977053-49977054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564076941	chr2:49977087-49977088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10171772	chr2:49977093-49977094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540174080	chr2:49977098-49977099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190762447	chr2:49977099-49977100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530063345	chr2:49977101-49977102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183327275	chr2:49977109-49977110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553445345	chr2:49977140-49977141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73930916	chr2:49977141-49977142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552741085	chr2:49977179-49977180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188955028	chr2:49977205-49977206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193254387	chr2:49977216-49977217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78968889	chr2:49977230-49977231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568750227	chr2:49977241-49977242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535470174	chr2:49977257-49977258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556651385	chr2:49977297-49977298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74716293	chr2:49977347-49977348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184138042	chr2:49977391-49977392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545536998	chr2:49977464-49977465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187922967	chr2:49977495-49977496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572746624	chr2:49977557-49977558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140665022	chr2:49977604-49977605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13403850	chr2:49977652-49977653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529112485	chr2:49977663-49977664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34046490	chr2:49977666-49977667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144474805	chr2:49977675-49977676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191564480	chr2:49977695-49977696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs41431847	chr2:49977702-49977703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49976600-49976800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:49976800-49977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:49976800-49980200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:49977000-49978200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:49978200-49981600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:49980000-49981000	Enhancers	HUVEC	blood vessel
7	chr2:49980200-49981600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:49980600-49980800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:49980600-49981200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:49980600-49981600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:49980800-49981000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:49981000-49981800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:49981600-49982800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:49981800-49982200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:49983000-49983200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:49998000-49998600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:49998200-49998600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:49998200-49998600	Active TSS	Brain Substantia Nigra	brain
19	chr2:50007800-50008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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