Variant report

Variant	esv3500224
Chromosome Location	chr4:49094958-49104686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1829 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150111352	chr4:49094961-49094962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201738608	chr4:49094962-49094963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373484922	chr4:49094963-49094964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368063572	chr4:49094964-49094965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113426371	chr4:49094965-49094966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76841266	chr4:49094971-49094972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112959310	chr4:49094981-49094982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184829318	chr4:49094989-49094990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188376992	chr4:49094998-49094999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369144730	chr4:49095001-49095002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62295255	chr4:49095011-49095012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375044547	chr4:49095031-49095032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62639942	chr4:49095033-49095034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62295256	chr4:49095036-49095037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375340069	chr4:49095048-49095049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543290013	chr4:49095049-49095050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373761693	chr4:49095052-49095053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370349892	chr4:49095061-49095062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377060608	chr4:49095063-49095064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370052209	chr4:49095071-49095072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62295257	chr4:49095080-49095081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201837369	chr4:49095086-49095087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374389243	chr4:49095088-49095089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377706294	chr4:49095091-49095092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74990089	chr4:49095094-49095095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62295258	chr4:49095100-49095101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62295259	chr4:49095103-49095104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140086588	chr4:49095111-49095112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151129261	chr4:49095112-49095113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370359028	chr4:49095116-49095117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62296960	chr4:49095119-49095120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144430350	chr4:49095121-49095122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143707053	chr4:49095122-49095123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201369342	chr4:49095128-49095129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145183712	chr4:49095131-49095132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141790994	chr4:49095132-49095133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200689845	chr4:49095141-49095142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372492126	chr4:49095149-49095150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377185792	chr4:49095156-49095157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201795642	chr4:49095160-49095161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201519702	chr4:49095164-49095165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200431190	chr4:49095165-49095166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376495094	chr4:49095166-49095167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375318940	chr4:49095169-49095170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370983326	chr4:49095172-49095173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368275385	chr4:49095175-49095176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201948207	chr4:49095178-49095179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184313770	chr4:49095188-49095189	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370656943	chr4:49095191-49095192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150300876	chr4:49095193-49095194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
6	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
7	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
8	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
17	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
18	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach
19	chr4:49093200-49095000	ZNF genes & repeats	Pancreas	Pancrea
20	chr4:49093200-49095000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr4:49093200-49095000	ZNF genes & repeats	Small Intestine	intestine
22	chr4:49093200-49095000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
23	chr4:49093200-49095000	ZNF genes & repeats	Dnd41	blood
24	chr4:49093200-49095000	ZNF genes & repeats	HUVEC	blood vessel
25	chr4:49093200-49095000	ZNF genes & repeats	K562	blood
26	chr4:49093200-49095000	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr4:49093200-49095200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:49093200-49095200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:49093200-49095200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr4:49093200-49095200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr4:49093200-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr4:49093200-49095200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr4:49093200-49095200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:49093200-49095200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:49093200-49095200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:49093200-49095200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:49093200-49095200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:49093200-49095200	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr4:49093200-49095200	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr4:49093200-49095200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr4:49093200-49095200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:49093200-49095200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr4:49093200-49095200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr4:49093200-49095200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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