Variant report

Variant	nsv583793
Chromosome Location	chr2:180068533-180078322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
2	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
3	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:

Extended variants
information (count: 279 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187466921	chr2:180068542-180068543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577542883	chr2:180068623-180068624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56198533	chr2:180068650-180068651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75764330	chr2:180068716-180068717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575213202	chr2:180068734-180068735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540592980	chr2:180068738-180068739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4093506	chr2:180068752-180068753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554199397	chr2:180068757-180068758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577216651	chr2:180068758-180068759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545960142	chr2:180068827-180068828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533483004	chr2:180068835-180068836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199968962	chr2:180068839-180068840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550646409	chr2:180068843-180068844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76489106	chr2:180068850-180068851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530587886	chr2:180068852-180068853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191834228	chr2:180068864-180068865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560805150	chr2:180068865-180068866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529926009	chr2:180068872-180068873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2886855	chr2:180068884-180068885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377717955	chr2:180068908-180068909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566108529	chr2:180068962-180068963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112075658	chr2:180068973-180068974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184776527	chr2:180068974-180068975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113122679	chr2:180068977-180068978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555726894	chr2:180069007-180069008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371098127	chr2:180069034-180069035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189180216	chr2:180069072-180069073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139115285	chr2:180069076-180069077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534492840	chr2:180069107-180069108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149927042	chr2:180069109-180069110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147622663	chr2:180069142-180069143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535322398	chr2:180069170-180069171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192549654	chr2:180069195-180069196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556751594	chr2:180069349-180069350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112916526	chr2:180069357-180069358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76869928	chr2:180069361-180069362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541957508	chr2:180069367-180069368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184299699	chr2:180069381-180069382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189498141	chr2:180069389-180069390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115784739	chr2:180069407-180069408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181801291	chr2:180069422-180069423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185937909	chr2:180069470-180069471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562402695	chr2:180069521-180069522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76068801	chr2:180069610-180069611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531425321	chr2:180069700-180069701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188838996	chr2:180069703-180069704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368157341	chr2:180069708-180069709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578038145	chr2:180069748-180069749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370433878	chr2:180069754-180069755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370836361	chr2:180069879-180069880	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:180067000-180068600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:180067400-180068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:180067600-180068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
9	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:180068400-180068600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:180068400-180068600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach
20	chr2:180068800-180070800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:180070000-180070200	Enhancers	Adipose Nuclei	Adipose
22	chr2:180070200-180071200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:180070600-180070800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:180070800-180071600	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:180071000-180071200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:180071200-180071600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:180071200-180071600	Enhancers	Adipose Nuclei	Adipose
28	chr2:180071200-180072000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr2:180071200-180072200	Enhancers	HepG2	liver
30	chr2:180071400-180071600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr2:180071400-180072200	Enhancers	Left Ventricle	heart
32	chr2:180071800-180072400	Enhancers	Pancreas	Pancrea
33	chr2:180072400-180076800	Weak transcription	Fetal Stomach	stomach
34	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
35	chr2:180076200-180077600	Enhancers	HepG2	liver
36	chr2:180076600-180077400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr2:180076800-180077400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:180076800-180077400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:180076800-180077400	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr2:180076800-180077400	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:180077000-180077400	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:180077000-180077600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:180077200-180077600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr2:180077600-180077800	Weak transcription	Fetal Stomach	stomach
45	chr2:180077600-180086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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