Variant report

Variant	nsv583823
Chromosome Location	chr2:180069173-180076733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 185 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192549654	chr2:180069195-180069196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556751594	chr2:180069349-180069350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112916526	chr2:180069357-180069358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76869928	chr2:180069361-180069362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541957508	chr2:180069367-180069368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184299699	chr2:180069381-180069382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189498141	chr2:180069389-180069390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115784739	chr2:180069407-180069408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181801291	chr2:180069422-180069423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185937909	chr2:180069470-180069471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562402695	chr2:180069521-180069522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76068801	chr2:180069610-180069611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531425321	chr2:180069700-180069701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188838996	chr2:180069703-180069704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368157341	chr2:180069708-180069709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578038145	chr2:180069748-180069749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370433878	chr2:180069754-180069755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370836361	chr2:180069879-180069880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562590131	chr2:180069924-180069925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375655906	chr2:180070049-180070050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7581609	chr2:180070192-180070193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181294453	chr2:180070222-180070223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534429545	chr2:180070293-180070294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144534061	chr2:180070326-180070327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571147249	chr2:180070327-180070328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147866521	chr2:180070393-180070394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186346224	chr2:180070402-180070403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576403024	chr2:180070462-180070463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10547073	chr2:180070558-180070559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148930489	chr2:180070572-180070573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191150304	chr2:180070576-180070577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143683392	chr2:180070662-180070663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530892715	chr2:180070704-180070705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540059370	chr2:180070750-180070751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115493245	chr2:180070878-180070879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs151059863	chr2:180070891-180070892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183037374	chr2:180070960-180070961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs562501716	chr2:180070993-180070994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531363157	chr2:180071027-180071028	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551081054	chr2:180071035-180071036	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs185230276	chr2:180071059-180071060	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201287730	chr2:180071071-180071072	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191171457	chr2:180071114-180071115	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527861042	chr2:180071299-180071300	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547974419	chr2:180071362-180071363	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566386044	chr2:180071372-180071373	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533671949	chr2:180071422-180071423	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183265451	chr2:180071454-180071455	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570015430	chr2:180071574-180071575	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372531575	chr2:180071588-180071589	ZNF genes & repeats Weak transcription Enhancers	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
4	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach
12	chr2:180068800-180070800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:180070000-180070200	Enhancers	Adipose Nuclei	Adipose
14	chr2:180070200-180071200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:180070600-180070800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:180070800-180071600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr2:180071000-180071200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:180071200-180071600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:180071200-180071600	Enhancers	Adipose Nuclei	Adipose
20	chr2:180071200-180072000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr2:180071200-180072200	Enhancers	HepG2	liver
22	chr2:180071400-180071600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr2:180071400-180072200	Enhancers	Left Ventricle	heart
24	chr2:180071800-180072400	Enhancers	Pancreas	Pancrea
25	chr2:180072400-180076800	Weak transcription	Fetal Stomach	stomach
26	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
27	chr2:180076200-180077600	Enhancers	HepG2	liver
28	chr2:180076600-180077400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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