Variant report

Variant	esv7565
Chromosome Location	chr4:49106705-49151810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7698 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:7698 , 50 per page) page: 1 2 3 4 5 6 7 ... 154

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202065246	chr4:49106708-49106709	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564214573	chr4:49106716-49106717	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531437180	chr4:49106718-49106719	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376393521	chr4:49106723-49106724	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543401953	chr4:49106726-49106727	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561541655	chr4:49106731-49106732	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62637455	chr4:49106732-49106733	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200880154	chr4:49106738-49106739	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112915063	chr4:49106742-49106743	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181807423	chr4:49106746-49106747	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201074822	chr4:49106748-49106749	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62294192	chr4:49106751-49106752	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146017401	chr4:49106754-49106755	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145771016	chr4:49106756-49106757	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142338338	chr4:49106758-49106759	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548626999	chr4:49106762-49106763	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560718899	chr4:49106773-49106774	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374734392	chr4:49106783-49106784	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200152511	chr4:49106787-49106788	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200111115	chr4:49106813-49106814	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527923087	chr4:49106816-49106817	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62294193	chr4:49106817-49106818	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113420704	chr4:49106819-49106820	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368837226	chr4:49106820-49106821	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28698371	chr4:49106824-49106825	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552251616	chr4:49106837-49106838	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200817957	chr4:49106840-49106841	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370235071	chr4:49106841-49106842	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570567634	chr4:49106842-49106843	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111759357	chr4:49106852-49106853	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28682869	chr4:49106853-49106854	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376333696	chr4:49106867-49106868	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145336196	chr4:49106868-49106869	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112105125	chr4:49106879-49106880	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537959225	chr4:49106889-49106890	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369200793	chr4:49106894-49106895	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201575880	chr4:49106896-49106897	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62294195	chr4:49106898-49106899	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550117573	chr4:49106904-49106905	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373393155	chr4:49106907-49106908	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62294196	chr4:49106909-49106910	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62294197	chr4:49106913-49106914	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151100484	chr4:49106919-49106920	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568386401	chr4:49106931-49106932	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111977644	chr4:49106933-49106934	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376835619	chr4:49106937-49106938	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535720546	chr4:49106944-49106945	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373729288	chr4:49106945-49106946	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201755135	chr4:49106948-49106949	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62294198	chr4:49106957-49106958	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:1386 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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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