Variant report

Variant	nsv442840
Chromosome Location	chr2:180067192-180079144
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:
4	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:

Extended variants
information (count: 337 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189224747	chr2:180067290-180067291	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192511221	chr2:180067365-180067366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535881144	chr2:180067373-180067374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143361773	chr2:180067451-180067452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555348506	chr2:180067554-180067555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139005820	chr2:180067617-180067618	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142272338	chr2:180067634-180067635	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377032000	chr2:180067708-180067709	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558873174	chr2:180067747-180067748	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183135041	chr2:180067751-180067752	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145930992	chr2:180067758-180067759	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555336623	chr2:180067762-180067763	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574851022	chr2:180067791-180067792	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540651381	chr2:180067811-180067812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569433481	chr2:180067866-180067867	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560524345	chr2:180067959-180067960	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532663673	chr2:180068076-180068077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370122094	chr2:180068079-180068080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114067809	chr2:180068142-180068143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530762748	chr2:180068169-180068170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550588149	chr2:180068170-180068171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367954294	chr2:180068174-180068175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191475	chr2:180068214-180068215	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78642553	chr2:180068221-180068222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529617136	chr2:180068242-180068243	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115824524	chr2:180068248-180068249	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557257827	chr2:180068269-180068270	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77934546	chr2:180068349-180068350	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538349930	chr2:180068388-180068389	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558645515	chr2:180068398-180068399	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139820484	chr2:180068460-180068461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187466921	chr2:180068542-180068543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577542883	chr2:180068623-180068624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56198533	chr2:180068650-180068651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75764330	chr2:180068716-180068717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575213202	chr2:180068734-180068735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540592980	chr2:180068738-180068739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4093506	chr2:180068752-180068753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554199397	chr2:180068757-180068758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577216651	chr2:180068758-180068759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545960142	chr2:180068827-180068828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533483004	chr2:180068835-180068836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199968962	chr2:180068839-180068840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550646409	chr2:180068843-180068844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76489106	chr2:180068850-180068851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530587886	chr2:180068852-180068853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191834228	chr2:180068864-180068865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560805150	chr2:180068865-180068866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529926009	chr2:180068872-180068873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2886855	chr2:180068884-180068885	ZNF genes & repeats 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:180065600-180068200	Weak transcription	Fetal Stomach	stomach
3	chr2:180066800-180067600	ZNF genes & repeats	Fetal Kidney	kidney
4	chr2:180066800-180067800	ZNF genes & repeats	HepG2	liver
5	chr2:180066800-180068400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:180067000-180068400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr2:180067000-180068600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:180067200-180068000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr2:180067200-180068200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:180067400-180068000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr2:180067400-180068400	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr2:180067400-180068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:180067600-180068000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:180067600-180068200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:180067600-180068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
21	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:180068200-180068400	Strong transcription	Fetal Stomach	stomach
26	chr2:180068400-180068600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:180068400-180068600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach
33	chr2:180068800-180070800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:180070000-180070200	Enhancers	Adipose Nuclei	Adipose
35	chr2:180070200-180071200	Weak transcription	Adipose Nuclei	Adipose
36	chr2:180070600-180070800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:180070800-180071600	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr2:180071000-180071200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:180071200-180071600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:180071200-180071600	Enhancers	Adipose Nuclei	Adipose
41	chr2:180071200-180072000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr2:180071200-180072200	Enhancers	HepG2	liver
43	chr2:180071400-180071600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr2:180071400-180072200	Enhancers	Left Ventricle	heart
45	chr2:180071800-180072400	Enhancers	Pancreas	Pancrea
46	chr2:180072400-180076800	Weak transcription	Fetal Stomach	stomach
47	chr2:180072400-180090400	Weak transcription	Pancreas	Pancrea
48	chr2:180076200-180077600	Enhancers	HepG2	liver
49	chr2:180076600-180077400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr2:180076800-180077400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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