Variant report

Variant	nsv508187
Chromosome Location	chr2:184080265-184100539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
2	chr2:184092172..184094879-chr2:184097017..184099581,2	K562	blood:
3	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:
4	chr2:184080700..184082212-chr2:184094955..184097317,2	K562	blood:
5	chr2:184095112..184100375-chr2:184102861..184106958,5	K562	blood:
6	chr2:184091272..184093435-chr2:184098756..184100523,2	MCF-7	breast:
7	chr2:184080634..184082480-chr2:184083427..184085243,2	K562	blood:
8	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
9	chr2:184091272..184093435-chr2:184098756..184100523,2	MCF-7	breast:
10	chr2:184099396..184101116-chr2:184108671..184110440,2	K562	blood:
11	chr2:184080634..184082480-chr2:184083427..184085243,2	K562	blood:
12	chr2:184095112..184100079-chr2:184103320..184106958,5	K562	blood:
13	chr2:184099257..184101116-chr2:184108671..184111600,2	K562	blood:
14	chr2:184092172..184094879-chr2:184097017..184099581,2	K562	blood:
15	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:
16	chr2:184080700..184082212-chr2:184094955..184097317,2	K562	blood:

No data

Extended variants
information (count: 708 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1462528	chr2:184080371-184080372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574147557	chr2:184080420-184080421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77043053	chr2:184080473-184080474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559518743	chr2:184080533-184080534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551401699	chr2:184080567-184080568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149768352	chr2:184080578-184080579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144755636	chr2:184080611-184080612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565538853	chr2:184080644-184080645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530832145	chr2:184080666-184080667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550903560	chr2:184080747-184080748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567767670	chr2:184080748-184080749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373670388	chr2:184080755-184080756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10183020	chr2:184080772-184080773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546860504	chr2:184080829-184080830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566658653	chr2:184080834-184080835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188264670	chr2:184080912-184080913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558603061	chr2:184080928-184080929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180721169	chr2:184080950-184080951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17757979	chr2:184080968-184080969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554135139	chr2:184080997-184080998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574240754	chr2:184081019-184081020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367674758	chr2:184081030-184081031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114030094	chr2:184081058-184081059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16824171	chr2:184081074-184081075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185978759	chr2:184081075-184081076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189740239	chr2:184081143-184081144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148534029	chr2:184081200-184081201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531194005	chr2:184081211-184081212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544656721	chr2:184081230-184081231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145559404	chr2:184081231-184081232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147709032	chr2:184081255-184081256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578108673	chr2:184081300-184081301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547134332	chr2:184081306-184081307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71427881	chr2:184081324-184081325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556308982	chr2:184081349-184081350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576519978	chr2:184081354-184081355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538999959	chr2:184081363-184081364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142652829	chr2:184081385-184081386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181335447	chr2:184081423-184081424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552309773	chr2:184081480-184081481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569099453	chr2:184081497-184081498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139254465	chr2:184081540-184081541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368306039	chr2:184081541-184081542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74560994	chr2:184081544-184081545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367737993	chr2:184081545-184081546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538140751	chr2:184081601-184081602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554171903	chr2:184081669-184081670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186908263	chr2:184081671-184081672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533510543	chr2:184081688-184081689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545124519	chr2:184081719-184081720	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
2	chr2:184062800-184080600	Weak transcription	K562	blood
3	chr2:184072200-184082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:184072600-184094000	Weak transcription	HSMM	muscle
5	chr2:184073000-184084600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:184074800-184080600	Weak transcription	A549	lung
7	chr2:184080600-184081000	Enhancers	HUVEC	blood vessel
8	chr2:184080600-184081200	Enhancers	K562	blood
9	chr2:184080800-184081000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:184082400-184091400	Weak transcription	Primary T cells from cord blood	blood
11	chr2:184084600-184085200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:184085200-184089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:184086800-184087600	Enhancers	HSMMtube	muscle
15	chr2:184087200-184087800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:184087400-184087800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:184087400-184087800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:184087400-184089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
20	chr2:184089400-184090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:184089400-184092400	Enhancers	Fetal Brain Male	brain
22	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:184089600-184090000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:184089600-184090000	Enhancers	Fetal Lung	lung
25	chr2:184089600-184090200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:184089600-184090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:184089600-184090200	Enhancers	Fetal Brain Female	brain
28	chr2:184089600-184090200	Enhancers	Osteobl	bone
29	chr2:184089600-184090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:184089600-184090400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:184089600-184093000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:184089800-184090000	Enhancers	Fetal Muscle Leg	muscle
33	chr2:184089800-184090200	Enhancers	Brain Angular Gyrus	brain
34	chr2:184089800-184090200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:184089800-184090200	Enhancers	Brain Substantia Nigra	brain
36	chr2:184089800-184090200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:184090000-184090200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:184090200-184091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:184090200-184091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:184090200-184094000	Weak transcription	Osteobl	bone
41	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:184090400-184091600	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:184090400-184094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:184091400-184091600	Active TSS	Primary T cells from cord blood	blood
45	chr2:184091600-184092200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:184091600-184092800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:184091600-184093000	Enhancers	Fetal Muscle Leg	muscle
48	chr2:184091600-184093000	Enhancers	Psoas Muscle	Psoas
49	chr2:184091800-184092400	Enhancers	Fetal Heart	heart
50	chr2:184092000-184092200	Enhancers	Fetal Brain Female	brain

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