Variant report

Variant	nsv1007287
Chromosome Location	chr2:184084153-184106849
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184099257..184101116-chr2:184108671..184111600,2	K562	blood:
2	chr2:184105207..184107780-chr2:184109813..184112746,3	K562	blood:
3	chr2:184101284..184103420-chr2:184104041..184106043,2	K562	blood:
4	chr2:184101284..184103420-chr2:184104041..184106043,2	K562	blood:
5	chr2:184104254..184106190-chr2:184107085..184109309,2	K562	blood:
6	chr2:184080700..184082212-chr2:184094955..184097317,2	K562	blood:
7	chr2:184095112..184100079-chr2:184103320..184106958,5	K562	blood:
8	chr2:184095112..184100079-chr2:184103320..184106958,5	K562	blood:
9	chr2:184095112..184100375-chr2:184102861..184106958,5	K562	blood:
10	chr2:184091272..184093435-chr2:184098756..184100523,2	MCF-7	breast:
11	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
12	chr2:184099396..184101116-chr2:184108671..184110440,2	K562	blood:
13	chr2:184091272..184093435-chr2:184098756..184100523,2	MCF-7	breast:
14	chr2:184092172..184094879-chr2:184097017..184099581,2	K562	blood:
15	chr2:184080634..184082480-chr2:184083427..184085243,2	K562	blood:
16	chr2:184095112..184100375-chr2:184102861..184106958,5	K562	blood:
17	chr2:184103542..184105971-chr2:184110160..184112023,2	MCF-7	breast:
18	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:
19	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
20	chr2:184092172..184094879-chr2:184097017..184099581,2	K562	blood:

No data

Extended variants
information (count: 743 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:743 , 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	rs10931070	chr2:184084153-184084154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576174602	chr2:184084210-184084211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7596050	chr2:184084221-184084222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555175718	chr2:184084227-184084228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554045289	chr2:184084301-184084302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571922792	chr2:184084350-184084351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189292995	chr2:184084351-184084352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564418167	chr2:184084377-184084378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565991918	chr2:184084459-184084460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535859781	chr2:184084501-184084502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114994367	chr2:184084502-184084503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543453778	chr2:184084529-184084530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377165565	chr2:184084545-184084546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78519985	chr2:184084553-184084554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529035046	chr2:184084594-184084595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61474347	chr2:184084631-184084632	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565067324	chr2:184084637-184084638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527889440	chr2:184084667-184084668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527766745	chr2:184084669-184084670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78204954	chr2:184084670-184084671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148270944	chr2:184084701-184084702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539739853	chr2:184084727-184084728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61232900	chr2:184084772-184084773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72898588	chr2:184084776-184084777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17707306	chr2:184084788-184084789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555461006	chr2:184084815-184084816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61058678	chr2:184084851-184084852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541264725	chr2:184084869-184084870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557666172	chr2:184084937-184084938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577899380	chr2:184084964-184084965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543337565	chr2:184084966-184084967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563542312	chr2:184084972-184084973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546802322	chr2:184085069-184085070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6751386	chr2:184085170-184085171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542598284	chr2:184085192-184085193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193123281	chr2:184085211-184085212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528164435	chr2:184085235-184085236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150812854	chr2:184085253-184085254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570933741	chr2:184085278-184085279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139311957	chr2:184085317-184085318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559702617	chr2:184085327-184085328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550076026	chr2:184085352-184085353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376261208	chr2:184085375-184085376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552376693	chr2:184085389-184085390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529988398	chr2:184085440-184085441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184321246	chr2:184085441-184085442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72898591	chr2:184085488-184085489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555567605	chr2:184085529-184085530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115569077	chr2:184085531-184085532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201892162	chr2:184085533-184085534	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
2	chr2:184072600-184094000	Weak transcription	HSMM	muscle
3	chr2:184073000-184084600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:184082400-184091400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:184084600-184085200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:184085200-184089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:184086800-184087600	Enhancers	HSMMtube	muscle
9	chr2:184087200-184087800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:184087400-184087800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:184087400-184087800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:184087400-184089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
14	chr2:184089400-184090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:184089400-184092400	Enhancers	Fetal Brain Male	brain
16	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:184089600-184090000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:184089600-184090000	Enhancers	Fetal Lung	lung
19	chr2:184089600-184090200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:184089600-184090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:184089600-184090200	Enhancers	Fetal Brain Female	brain
22	chr2:184089600-184090200	Enhancers	Osteobl	bone
23	chr2:184089600-184090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:184089600-184090400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:184089600-184093000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:184089800-184090000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:184089800-184090200	Enhancers	Brain Angular Gyrus	brain
28	chr2:184089800-184090200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:184089800-184090200	Enhancers	Brain Substantia Nigra	brain
30	chr2:184089800-184090200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:184090000-184090200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:184090200-184091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:184090200-184091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:184090200-184094000	Weak transcription	Osteobl	bone
35	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:184090400-184091600	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:184090400-184094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:184091400-184091600	Active TSS	Primary T cells from cord blood	blood
39	chr2:184091600-184092200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:184091600-184092800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:184091600-184093000	Enhancers	Fetal Muscle Leg	muscle
42	chr2:184091600-184093000	Enhancers	Psoas Muscle	Psoas
43	chr2:184091800-184092400	Enhancers	Fetal Heart	heart
44	chr2:184092000-184092200	Enhancers	Fetal Brain Female	brain
45	chr2:184092200-184092400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:184092200-184096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:184093000-184095200	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:184093800-184094200	Enhancers	NH-A	brain
49	chr2:184094000-184094200	Enhancers	HSMM	muscle
50	chr2:184094000-184094600	Enhancers	HSMMtube	muscle

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