Variant report

Variant	esv3500203
Chromosome Location	chr4:49106489-49107982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs537897588	chr4:49106491-49106492	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62650928	chr4:49106492-49106493	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556144312	chr4:49106493-49106494	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201905863	chr4:49106501-49106502	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76254031	chr4:49106502-49106503	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60944054	chr4:49106503-49106504	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62643190	chr4:49106507-49106508	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375051472	chr4:49106510-49106511	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62650929	chr4:49106517-49106518	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202011071	chr4:49106518-49106519	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372036125	chr4:49106520-49106521	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375203785	chr4:49106524-49106525	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186923117	chr4:49106528-49106529	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141230482	chr4:49106531-49106532	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62650930	chr4:49106534-49106535	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76751388	chr4:49106549-49106550	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76819288	chr4:49106552-49106553	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77436093	chr4:49106554-49106555	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199536655	chr4:49106571-49106572	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199832600	chr4:49106577-49106578	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60299062	chr4:49106578-49106579	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61328010	chr4:49106582-49106583	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369696210	chr4:49106583-49106584	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62650931	chr4:49106592-49106593	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148611362	chr4:49106598-49106599	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144078835	chr4:49106602-49106603	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138743959	chr4:49106606-49106607	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62650932	chr4:49106629-49106630	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143576060	chr4:49106630-49106631	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144625535	chr4:49106631-49106632	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139913372	chr4:49106635-49106636	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147663453	chr4:49106644-49106645	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113639811	chr4:49106647-49106648	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373442017	chr4:49106648-49106649	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377428436	chr4:49106657-49106658	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369097729	chr4:49106658-49106659	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200481182	chr4:49106662-49106663	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377588167	chr4:49106663-49106664	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200775463	chr4:49106664-49106665	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553904624	chr4:49106666-49106667	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370589010	chr4:49106668-49106669	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111204173	chr4:49106673-49106674	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111204174	chr4:49106677-49106678	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572176784	chr4:49106688-49106689	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62637452	chr4:49106691-49106692	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118199784	chr4:49106693-49106694	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62637453	chr4:49106696-49106697	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201609601	chr4:49106699-49106700	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62637454	chr4:49106703-49106704	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202065246	chr4:49106708-49106709	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49098200-49123400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:49098200-49123400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr4:49098200-49123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr4:49098200-49123400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr4:49098200-49123600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr4:49098200-49123600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr4:49104200-49123400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr4:49104200-49123600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr4:49104400-49108000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:49104400-49108000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr4:49104400-49108000	ZNF genes & repeats	Aorta	Aorta
12	chr4:49104400-49108000	ZNF genes & repeats	Hela-S3	cervix
13	chr4:49104400-49108200	ZNF genes & repeats	Brain Angular Gyrus	brain
14	chr4:49104400-49108200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr4:49104400-49108200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:49104400-49108200	ZNF genes & repeats	Fetal Brain Male	brain
17	chr4:49104400-49108200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr4:49104400-49110800	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr4:49104400-49110800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr4:49104400-49110800	ZNF genes & repeats	Fetal Kidney	kidney
23	chr4:49104400-49110800	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr4:49104400-49110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr4:49104400-49113000	ZNF genes & repeats	Small Intestine	intestine
26	chr4:49104400-49113200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr4:49104400-49113400	ZNF genes & repeats	Left Ventricle	heart
28	chr4:49104400-49115600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
29	chr4:49104400-49123200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr4:49104400-49123200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr4:49104400-49123200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:49104400-49123200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:49104400-49123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr4:49104400-49123200	ZNF genes & repeats	Fetal Lung	lung
35	chr4:49104400-49123200	ZNF genes & repeats	Pancreas	Pancrea
36	chr4:49104400-49123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr4:49104400-49123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:49104400-49123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:49104400-49123400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr4:49104400-49123400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:49104400-49123400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:49104400-49123400	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr4:49104400-49123400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:49104400-49123400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:49104400-49123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:49104400-49123400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr4:49104400-49123400	ZNF genes & repeats	Liver	Liver
48	chr4:49104400-49123400	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr4:49104400-49123400	ZNF genes & repeats	Colonic Mucosa	Colon
50	chr4:49104400-49123400	ZNF genes & repeats	Colon Smooth Muscle	Colon

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