Variant report

Variant	nsv583936
Chromosome Location	chr2:184086214-184089512
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	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549913040	chr2:184086218-184086219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7576936	chr2:184086289-184086290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147305334	chr2:184086292-184086293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377433422	chr2:184086319-184086320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548995431	chr2:184086334-184086335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565923045	chr2:184086363-184086364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7603511	chr2:184086397-184086398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572255535	chr2:184086424-184086425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185658720	chr2:184086437-184086438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547549900	chr2:184086462-184086463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537252795	chr2:184086556-184086557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112455071	chr2:184086560-184086561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188905043	chr2:184086582-184086583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536527105	chr2:184086595-184086596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552967208	chr2:184086646-184086647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140139341	chr2:184086687-184086688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572763585	chr2:184086709-184086710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544959191	chr2:184086764-184086765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564830161	chr2:184086796-184086797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575256602	chr2:184086797-184086798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561132624	chr2:184086814-184086815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79719592	chr2:184086931-184086932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144811571	chr2:184086933-184086934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529579384	chr2:184086939-184086940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550748015	chr2:184086957-184086958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145889274	chr2:184086959-184086960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554825699	chr2:184087045-184087046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17758271	chr2:184087078-184087079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571689126	chr2:184087134-184087135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148573743	chr2:184087230-184087231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17758295	chr2:184087231-184087232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567451308	chr2:184087299-184087300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536414723	chr2:184087308-184087309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553011565	chr2:184087330-184087331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566709237	chr2:184087399-184087400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56263403	chr2:184087423-184087424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558522650	chr2:184087427-184087428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17707395	chr2:184087428-184087429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541251760	chr2:184087598-184087599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554212587	chr2:184087627-184087628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559618490	chr2:184087632-184087633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181394156	chr2:184087639-184087640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6717880	chr2:184087648-184087649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369114383	chr2:184087658-184087659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528773219	chr2:184087672-184087673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111242986	chr2:184087685-184087686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201376988	chr2:184087700-184087701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545118769	chr2:184087714-184087715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565259131	chr2:184087723-184087724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185879446	chr2:184087732-184087733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
2	chr2:184072600-184094000	Weak transcription	HSMM	muscle
3	chr2:184082400-184091400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:184085200-184089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:184086800-184087600	Enhancers	HSMMtube	muscle
7	chr2:184087200-184087800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:184087400-184087800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:184087400-184087800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:184087400-184089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
12	chr2:184089400-184090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:184089400-184092400	Enhancers	Fetal Brain Male	brain
14	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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