Variant report

Variant	esv3363110
Chromosome Location	chr4:49106118-49108340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 434 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62294177	chr4:49106123-49106124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62294178	chr4:49106125-49106126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560098524	chr4:49106132-49106133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374864799	chr4:49106135-49106136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74194872	chr4:49106138-49106139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527346358	chr4:49106140-49106141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545937852	chr4:49106142-49106143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62294179	chr4:49106150-49106151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74452069	chr4:49106153-49106154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62294180	chr4:49106154-49106155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74372312	chr4:49106155-49106156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75044453	chr4:49106157-49106158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77788389	chr4:49106158-49106159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531374000	chr4:49106159-49106160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77982167	chr4:49106162-49106163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75514413	chr4:49106163-49106164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75082577	chr4:49106164-49106165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79054480	chr4:49106167-49106168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551291822	chr4:49106168-49106169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75935932	chr4:49106175-49106176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62294181	chr4:49106179-49106180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200510468	chr4:49106184-49106185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201046964	chr4:49106185-49106186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569487426	chr4:49106186-49106187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199659523	chr4:49106189-49106190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62294182	chr4:49106191-49106192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200568581	chr4:49106208-49106209	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62294183	chr4:49106213-49106214	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62294184	chr4:49106216-49106217	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62294185	chr4:49106223-49106224	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372051494	chr4:49106229-49106230	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62294186	chr4:49106239-49106240	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200758664	chr4:49106240-49106241	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530336771	chr4:49106243-49106244	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149091544	chr4:49106244-49106245	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181893164	chr4:49106249-49106250	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199514427	chr4:49106257-49106258	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145685354	chr4:49106264-49106265	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62294187	chr4:49106270-49106271	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62294188	chr4:49106283-49106284	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373126723	chr4:49106288-49106289	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371613318	chr4:49106289-49106290	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376501424	chr4:49106292-49106293	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62294189	chr4:49106293-49106294	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36182442	chr4:49106299-49106300	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369854537	chr4:49106306-49106307	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368731557	chr4:49106307-49106308	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373821899	chr4:49106308-49106309	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376254856	chr4:49106311-49106312	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62637449	chr4:49106320-49106321	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:120 , 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	chr4:49104400-49106200	ZNF genes & repeats	Gastric	stomach
10	chr4:49104400-49108000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:49104400-49108000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
12	chr4:49104400-49108000	ZNF genes & repeats	Aorta	Aorta
13	chr4:49104400-49108000	ZNF genes & repeats	Hela-S3	cervix
14	chr4:49104400-49108200	ZNF genes & repeats	Brain Angular Gyrus	brain
15	chr4:49104400-49108200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
16	chr4:49104400-49108200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:49104400-49108200	ZNF genes & repeats	Fetal Brain Male	brain
18	chr4:49104400-49108200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr4:49104400-49110800	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr4:49104400-49110800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr4:49104400-49110800	ZNF genes & repeats	Fetal Kidney	kidney
24	chr4:49104400-49110800	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr4:49104400-49110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr4:49104400-49113000	ZNF genes & repeats	Small Intestine	intestine
27	chr4:49104400-49113200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr4:49104400-49113400	ZNF genes & repeats	Left Ventricle	heart
29	chr4:49104400-49115600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr4:49104400-49123200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr4:49104400-49123200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr4:49104400-49123200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:49104400-49123200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:49104400-49123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
35	chr4:49104400-49123200	ZNF genes & repeats	Fetal Lung	lung
36	chr4:49104400-49123200	ZNF genes & repeats	Pancreas	Pancrea
37	chr4:49104400-49123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
38	chr4:49104400-49123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:49104400-49123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:49104400-49123400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr4:49104400-49123400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:49104400-49123400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:49104400-49123400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr4:49104400-49123400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:49104400-49123400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:49104400-49123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:49104400-49123400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr4:49104400-49123400	ZNF genes & repeats	Liver	Liver
49	chr4:49104400-49123400	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr4:49104400-49123400	ZNF genes & repeats	Colonic Mucosa	Colon

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