Variant report

Variant	esv3481
Chromosome Location	chr4:49098280-49158453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:89879085..89879687-chr4:49152239..49152833,2	MCF-7	breast:

Extended variants
information (count: 10509 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:10509 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200764426	chr4:49098284-49098285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202059096	chr4:49098285-49098286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113087356	chr4:49098289-49098290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62637424	chr4:49098292-49098293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112697120	chr4:49098327-49098328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375169024	chr4:49098329-49098330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62293884	chr4:49098331-49098332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369407650	chr4:49098341-49098342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185618185	chr4:49098343-49098344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62637425	chr4:49098345-49098346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62637426	chr4:49098350-49098351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368775212	chr4:49098356-49098357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200770018	chr4:49098362-49098363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373494497	chr4:49098363-49098364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143752719	chr4:49098366-49098367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62637428	chr4:49098377-49098378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375323987	chr4:49098394-49098395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367774785	chr4:49098397-49098398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371174691	chr4:49098399-49098400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375342345	chr4:49098410-49098411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369838639	chr4:49098411-49098412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373175375	chr4:49098420-49098421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376153225	chr4:49098423-49098424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6855468	chr4:49098435-49098436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs202218376	chr4:49098436-49098437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62640272	chr4:49098448-49098449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74476786	chr4:49098481-49098482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201720086	chr4:49098485-49098486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62640274	chr4:49098487-49098488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201736064	chr4:49098495-49098496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369426395	chr4:49098503-49098504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs118198313	chr4:49098508-49098509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200325971	chr4:49098509-49098510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200042178	chr4:49098510-49098511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373510162	chr4:49098522-49098523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62649882	chr4:49098525-49098526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201429125	chr4:49098529-49098530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75715732	chr4:49098532-49098533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374523310	chr4:49098538-49098539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377702630	chr4:49098543-49098544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199743501	chr4:49098544-49098545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569524394	chr4:49098545-49098546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs118194118	chr4:49098546-49098547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62640275	chr4:49098548-49098549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368799114	chr4:49098553-49098554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373030268	chr4:49098561-49098562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62640276	chr4:49098564-49098565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113124473	chr4:49098572-49098573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62640277	chr4:49098575-49098576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62640278	chr4:49098580-49098581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49096600-49098400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:49098200-49098600	ZNF genes & repeats	Ovary	ovary
3	chr4:49098200-49098600	ZNF genes & repeats	NHDF-Ad	bronchial
4	chr4:49098200-49098800	ZNF genes & repeats	Right Atrium	heart
5	chr4:49098200-49099000	ZNF genes & repeats	A549	lung
6	chr4:49098200-49099800	ZNF genes & repeats	Fetal Thymus	thymus
7	chr4:49098200-49100000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:49098200-49100000	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr4:49098200-49101200	ZNF genes & repeats	Gastric	stomach
10	chr4:49098200-49102400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:49098200-49102400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
12	chr4:49098200-49102400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr4:49098200-49102400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr4:49098200-49102400	ZNF genes & repeats	Esophagus	oesophagus
15	chr4:49098200-49102400	ZNF genes & repeats	Left Ventricle	heart
16	chr4:49098200-49102400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
17	chr4:49098200-49102600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr4:49098200-49102600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:49098200-49102600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:49098200-49102600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:49098200-49102600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:49098200-49102600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:49098200-49102600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:49098200-49102600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:49098200-49102600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr4:49098200-49102600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr4:49098200-49102600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:49098200-49102600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr4:49098200-49102600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr4:49098200-49102600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:49098200-49102600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:49098200-49102600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:49098200-49102600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr4:49098200-49102600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
35	chr4:49098200-49102600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:49098200-49102600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:49098200-49102600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr4:49098200-49102600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr4:49098200-49102600	ZNF genes & repeats	Aorta	Aorta
40	chr4:49098200-49102600	ZNF genes & repeats	Brain Angular Gyrus	brain
41	chr4:49098200-49102600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr4:49098200-49102600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr4:49098200-49102600	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr4:49098200-49102600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr4:49098200-49102600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:49098200-49102600	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr4:49098200-49102600	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr4:49098200-49102600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr4:49098200-49102600	ZNF genes & repeats	Fetal Brain Male	brain
50	chr4:49098200-49102600	ZNF genes & repeats	Fetal Heart	heart

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