Variant report

Variant	esv6427
Chromosome Location	chr4:49099112-49123136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4231 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4231 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377696767	chr4:49099112-49099113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371234667	chr4:49099118-49099119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201387320	chr4:49099122-49099123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62293893	chr4:49099127-49099128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375870525	chr4:49099128-49099129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62293894	chr4:49099132-49099133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200318912	chr4:49099136-49099137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62293895	chr4:49099141-49099142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368892824	chr4:49099152-49099153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs373865960	chr4:49099153-49099154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199781500	chr4:49099154-49099155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62293896	chr4:49099161-49099162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112006298	chr4:49099177-49099178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200500712	chr4:49099182-49099183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201483887	chr4:49099183-49099184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199751032	chr4:49099189-49099190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs202101894	chr4:49099209-49099210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11735504	chr4:49099214-49099215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11721870	chr4:49099224-49099225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201815623	chr4:49099233-49099234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370777420	chr4:49099235-49099236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112319341	chr4:49099243-49099244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs11734618	chr4:49099254-49099255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201179566	chr4:49099263-49099264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201827936	chr4:49099267-49099268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs28815862	chr4:49099282-49099283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs56793235	chr4:49099291-49099292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11730383	chr4:49099293-49099294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs56713223	chr4:49099295-49099296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11730385	chr4:49099297-49099298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11730388	chr4:49099312-49099313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370961054	chr4:49099319-49099320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373779952	chr4:49099328-49099329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs9631587	chr4:49099330-49099331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200126517	chr4:49099343-49099344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201351420	chr4:49099349-49099350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371313421	chr4:49099353-49099354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186214731	chr4:49099354-49099355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11935583	chr4:49099361-49099362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs200456196	chr4:49099372-49099373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62641940	chr4:49099389-49099390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113700336	chr4:49099393-49099394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374753839	chr4:49099394-49099395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201209369	chr4:49099404-49099405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202143863	chr4:49099409-49099410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62641941	chr4:49099418-49099419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200247769	chr4:49099420-49099421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200827589	chr4:49099424-49099425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28375904	chr4:49099427-49099428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs367862846	chr4:49099428-49099429	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:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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

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