Variant report

Variant	nsv583865
Chromosome Location	chr2:180072586-180088968
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
2	chr2:180083493..180084369-chr2:180219016..180219973,3	MCF-7	breast:
3	chr2:180083560..180084369-chr2:180205061..180206359,5	MCF-7	breast:
4	chr2:180084814..180086461-chr2:180088409..180090009,2	K562	blood:
5	chr2:180083866..180084412-chr2:180305093..180305735,3	K562	blood:
6	chr2:180083456..180084009-chr2:180615655..180616482,2	MCF-7	breast:
7	chr2:180083839..180084369-chr2:180763413..180764243,2	K562	blood:
8	chr2:180083424..180084063-chr2:180275340..180276272,2	MCF-7	breast:
9	chr2:180083391..180084449-chr2:180205175..180206192,5	MCF-7	breast:
10	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:

No data

Extended variants
information (count: 553 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:553 , 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	rs12105478	chr2:180072586-180072587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371293348	chr2:180072650-180072651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571048892	chr2:180072669-180072670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111244704	chr2:180072691-180072692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556396578	chr2:180072725-180072726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184535748	chr2:180072815-180072816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375562576	chr2:180072878-180072879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1838872	chr2:180072951-180072952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371255375	chr2:180072972-180072973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555395929	chr2:180072978-180072979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572120676	chr2:180073047-180073048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553625392	chr2:180073070-180073071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541102975	chr2:180073073-180073074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533596001	chr2:180073126-180073127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564040195	chr2:180073129-180073130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188982529	chr2:180073135-180073136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543657304	chr2:180073179-180073180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573542166	chr2:180073205-180073206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142210883	chr2:180073241-180073242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182157708	chr2:180073277-180073278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145900015	chr2:180073339-180073340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138504744	chr2:180073388-180073389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528511420	chr2:180073422-180073423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149244196	chr2:180073527-180073528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115165468	chr2:180073538-180073539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542543387	chr2:180073561-180073562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77651625	chr2:180073564-180073565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550012336	chr2:180073608-180073609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185160678	chr2:180073649-180073650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535749026	chr2:180073794-180073795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189959690	chr2:180073799-180073800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199696844	chr2:180073909-180073910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566895216	chr2:180073915-180073916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527735671	chr2:180073967-180073968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571970481	chr2:180074037-180074038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181222922	chr2:180074045-180074046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557784789	chr2:180074048-180074049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577673054	chr2:180074149-180074150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373356917	chr2:180074193-180074194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543543088	chr2:180074195-180074196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563536007	chr2:180074212-180074213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35075647	chr2:180074225-180074226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185373786	chr2:180074226-180074227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535379876	chr2:180074307-180074308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559636414	chr2:180074348-180074349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528460270	chr2:180074349-180074350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189734793	chr2:180074371-180074372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563958276	chr2:180074413-180074414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565342077	chr2:180074453-180074454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148423636	chr2:180074508-180074509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180072400-180076800	Weak transcription	Fetal Stomach	stomach
6	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
7	chr2:180076200-180077600	Enhancers	HepG2	liver
8	chr2:180076600-180077400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr2:180076800-180077400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:180076800-180077400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:180076800-180077400	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr2:180076800-180077400	ZNF genes & repeats	Fetal Stomach	stomach
13	chr2:180077000-180077400	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr2:180077000-180077600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:180077200-180077600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
16	chr2:180077600-180077800	Weak transcription	Fetal Stomach	stomach
17	chr2:180077600-180086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:180083200-180083800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:180083200-180083800	Enhancers	HSMMtube	muscle
20	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:180083200-180084200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:180083400-180083800	Enhancers	Adipose Nuclei	Adipose
23	chr2:180083400-180083800	Enhancers	Fetal Heart	heart
24	chr2:180083400-180083800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:180083400-180083800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:180083400-180083800	Enhancers	HepG2	liver
27	chr2:180083400-180083800	Enhancers	HSMM	muscle
28	chr2:180083400-180084000	Enhancers	Liver	Liver
29	chr2:180083400-180084000	Enhancers	Colon Smooth Muscle	Colon
30	chr2:180083400-180084200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:180083400-180084200	Enhancers	Brain Angular Gyrus	brain
32	chr2:180083400-180085400	Enhancers	Brain Hippocampus Middle	brain
33	chr2:180083400-180085600	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:180083400-180085600	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:180083600-180083800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:180083600-180083800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:180083600-180083800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:180083600-180083800	Enhancers	Aorta	Aorta
39	chr2:180083600-180083800	Enhancers	Brain Anterior Caudate	brain
40	chr2:180083600-180083800	Enhancers	Psoas Muscle	Psoas
41	chr2:180083600-180083800	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:180083600-180083800	Enhancers	HMEC	breast
43	chr2:180083600-180084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:180083600-180084000	Enhancers	Right Atrium	heart
45	chr2:180083600-180084000	Enhancers	Right Ventricle	heart
46	chr2:180083600-180084000	Enhancers	Small Intestine	intestine
47	chr2:180083600-180084000	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:180083600-180084000	Enhancers	Osteobl	bone
49	chr2:180083600-180084200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:180083600-180084200	Enhancers	Duodenum Smooth Muscle	Duodenum

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