Variant report

Variant	esv6226
Chromosome Location	chr8:46841679-46845666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4595134	chr8:46841682-46841683	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs4496976	chr8:46841691-46841692	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs4324927	chr8:46841695-46841696	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs4490844	chr8:46841704-46841705	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs4872638	chr8:46841710-46841711	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs4623442	chr8:46841719-46841720	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs4341170	chr8:46841743-46841744	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs4324926	chr8:46841747-46841748	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs4644273	chr8:46841764-46841765	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs112435189	chr8:46841765-46841766	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs200222562	chr8:46841794-46841795	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs77239353	chr8:46841803-46841804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4644272	chr8:46841812-46841813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4250210	chr8:46841818-46841819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4588867	chr8:46841823-46841824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4250180	chr8:46841825-46841826	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4285501	chr8:46841836-46841837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4249342	chr8:46841847-46841848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62497237	chr8:46841851-46841852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62497238	chr8:46841860-46841861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4249601	chr8:46841867-46841868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4644271	chr8:46841872-46841873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62497239	chr8:46841874-46841875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200828906	chr8:46841881-46841882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62497240	chr8:46841883-46841884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62497241	chr8:46841886-46841887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4587344	chr8:46841896-46841897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62497242	chr8:46841900-46841901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4383985	chr8:46841908-46841909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62497243	chr8:46841911-46841912	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200719121	chr8:46841914-46841915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62497244	chr8:46841927-46841928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111989451	chr8:46841947-46841948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111552780	chr8:46842014-46842015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62497245	chr8:46842068-46842069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375712786	chr8:46842080-46842081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368814646	chr8:46842111-46842112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372973891	chr8:46842114-46842115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377031268	chr8:46842115-46842116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201063336	chr8:46842124-46842125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4425767	chr8:46842136-46842137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529493687	chr8:46842146-46842147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76666843	chr8:46842147-46842148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs80194475	chr8:46842152-46842153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549725484	chr8:46842156-46842157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200554706	chr8:46842165-46842166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs74365183	chr8:46842167-46842168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs4483164	chr8:46842168-46842169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4618704	chr8:46842176-46842177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4518682	chr8:46842182-46842183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46839400-46841800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:46839400-46841800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:46839400-46841800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:46839400-46841800	ZNF genes & repeats	Liver	Liver
5	chr8:46839400-46841800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr8:46839400-46841800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr8:46839400-46841800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr8:46839400-46842200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr8:46839400-46842200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:46839400-46842400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr8:46839600-46841800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr8:46839600-46841800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr8:46839600-46841800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:46839600-46841800	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr8:46840400-46842200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr8:46840600-46841800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr8:46840600-46842000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr8:46840800-46841800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr8:46840800-46841800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr8:46840800-46841800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:46840800-46841800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:46840800-46841800	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr8:46840800-46841800	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr8:46840800-46841800	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr8:46840800-46841800	ZNF genes & repeats	Fetal Lung	lung
28	chr8:46840800-46841800	ZNF genes & repeats	Right Ventricle	heart
29	chr8:46840800-46841800	ZNF genes & repeats	HepG2	liver
30	chr8:46840800-46842000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr8:46841000-46841800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:46841000-46841800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:46841000-46841800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:46841000-46841800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr8:46841000-46841800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:46841000-46841800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:46841000-46841800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr8:46841000-46841800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:46841000-46841800	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr8:46841000-46841800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr8:46841000-46841800	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr8:46841000-46841800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr8:46841000-46841800	ZNF genes & repeats	Gastric	stomach
44	chr8:46841000-46841800	ZNF genes & repeats	Left Ventricle	heart
45	chr8:46841000-46841800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr8:46841000-46841800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
47	chr8:46841000-46841800	ZNF genes & repeats	Right Atrium	heart
48	chr8:46841000-46841800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
49	chr8:46841000-46841800	ZNF genes & repeats	Small Intestine	intestine
50	chr8:46841000-46841800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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