Variant report

Variant	esv8140
Chromosome Location	chr4:49110383-49121147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1810 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1810 , 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	rs200255107	chr4:49110402-49110403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368835327	chr4:49110410-49110411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201156204	chr4:49110411-49110412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62650941	chr4:49110427-49110428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111204193	chr4:49110441-49110442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200511247	chr4:49110443-49110444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528375488	chr4:49110450-49110451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371632511	chr4:49110460-49110461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs28802142	chr4:49110465-49110466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139914309	chr4:49110480-49110481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149810806	chr4:49110493-49110494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374862078	chr4:49110501-49110502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs199680153	chr4:49110505-49110506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373528021	chr4:49110510-49110511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182852237	chr4:49110518-49110519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368443278	chr4:49110553-49110554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144720847	chr4:49110554-49110555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148516636	chr4:49110575-49110576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372428245	chr4:49110580-49110581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188067285	chr4:49110591-49110592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142811289	chr4:49110594-49110595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147659618	chr4:49110595-49110596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564757771	chr4:49110596-49110597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142640453	chr4:49110610-49110611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184482651	chr4:49110618-49110619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201851707	chr4:49110619-49110620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62638565	chr4:49110626-49110627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111204194	chr4:49110648-49110649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs202041406	chr4:49110649-49110650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200980914	chr4:49110656-49110657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373322698	chr4:49110658-49110659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs202195220	chr4:49110659-49110660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs111204195	chr4:49110661-49110662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368679528	chr4:49110663-49110664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs192210224	chr4:49110670-49110671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147941752	chr4:49110673-49110674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373819766	chr4:49110678-49110679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377544904	chr4:49110679-49110680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140550680	chr4:49110680-49110681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201236660	chr4:49110691-49110692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141678051	chr4:49110692-49110693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150122217	chr4:49110704-49110705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138436700	chr4:49110705-49110706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201150915	chr4:49110714-49110715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148841880	chr4:49110716-49110717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199765987	chr4:49110724-49110725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62637460	chr4:49110733-49110734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373579039	chr4:49110758-49110759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145266927	chr4:49110769-49110770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377042804	chr4:49110770-49110771	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:238 , 50 per page) page: 1 2 3 4 5

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	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:49104400-49110800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr4:49104400-49110800	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr4:49104400-49110800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr4:49104400-49110800	ZNF genes & repeats	Fetal Kidney	kidney
14	chr4:49104400-49110800	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr4:49104400-49110800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr4:49104400-49113000	ZNF genes & repeats	Small Intestine	intestine
17	chr4:49104400-49113200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr4:49104400-49113400	ZNF genes & repeats	Left Ventricle	heart
19	chr4:49104400-49115600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr4:49104400-49123200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr4:49104400-49123200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr4:49104400-49123200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:49104400-49123200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:49104400-49123200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
25	chr4:49104400-49123200	ZNF genes & repeats	Fetal Lung	lung
26	chr4:49104400-49123200	ZNF genes & repeats	Pancreas	Pancrea
27	chr4:49104400-49123200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr4:49104400-49123400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:49104400-49123400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:49104400-49123400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr4:49104400-49123400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:49104400-49123400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:49104400-49123400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr4:49104400-49123400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:49104400-49123400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:49104400-49123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:49104400-49123400	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr4:49104400-49123400	ZNF genes & repeats	Liver	Liver
39	chr4:49104400-49123400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr4:49104400-49123400	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr4:49104400-49123400	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr4:49104400-49123400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr4:49104400-49123400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr4:49104400-49123400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr4:49104400-49123400	ZNF genes & repeats	Dnd41	blood
46	chr4:49104400-49123600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr4:49104600-49110800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
48	chr4:49104600-49110800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:49104600-49110800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr4:49104600-49110800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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