Variant report

Variant	esv3406556
Chromosome Location	chr4:49101354-49101890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111215527	chr4:49101366-49101367	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs568262303	chr4:49101368-49101369	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs62649911	chr4:49101371-49101372	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs62649912	chr4:49101377-49101378	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs377078153	chr4:49101381-49101382	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs111215496	chr4:49101385-49101386	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs183927033	chr4:49101408-49101409	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs371438339	chr4:49101420-49101421	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs201225674	chr4:49101432-49101433	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs372689872	chr4:49101435-49101436	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs202145147	chr4:49101439-49101440	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs201285200	chr4:49101442-49101443	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs62649913	chr4:49101451-49101452	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs535586514	chr4:49101456-49101457	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs369262099	chr4:49101467-49101468	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs370201732	chr4:49101470-49101471	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs200996124	chr4:49101474-49101475	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs202129546	chr4:49101479-49101480	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs367869028	chr4:49101509-49101510	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs201086999	chr4:49101522-49101523	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs375158148	chr4:49101530-49101531	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs368748005	chr4:49101533-49101534	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs368558645	chr4:49101536-49101537	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs202168266	chr4:49101538-49101539	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs200403958	chr4:49101543-49101544	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs201397505	chr4:49101546-49101547	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs199592463	chr4:49101547-49101548	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs62649914	chr4:49101562-49101563	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62649915	chr4:49101564-49101565	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs201490952	chr4:49101567-49101568	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs200191505	chr4:49101568-49101569	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs62649916	chr4:49101572-49101573	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs62649917	chr4:49101588-49101589	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs62649918	chr4:49101601-49101602	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs201490421	chr4:49101611-49101612	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs375038443	chr4:49101617-49101618	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs199712598	chr4:49101626-49101627	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs62649919	chr4:49101627-49101628	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs62649920	chr4:49101643-49101644	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs372087084	chr4:49101646-49101647	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs200240731	chr4:49101647-49101648	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs376417285	chr4:49101672-49101673	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs369492850	chr4:49101677-49101678	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs200834544	chr4:49101687-49101688	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs4558843	chr4:49101689-49101690	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs7375241	chr4:49101694-49101695	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs373990789	chr4:49101697-49101698	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs199957028	chr4:49101701-49101702	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs368825616	chr4:49101704-49101705	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs373191170	chr4:49101708-49101709	ZNF genes & repeats Flanking Bivalent TSS/Enh	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:94 , 50 per page) page: 1 2

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

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