Variant report

Variant	esv3421074
Chromosome Location	chr8:46845092-46848371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 385 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:385 , 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	rs78012218	chr8:46845093-46845094	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4507771	chr8:46845095-46845096	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4292697	chr8:46845106-46845107	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4872887	chr8:46845120-46845121	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4506227	chr8:46845129-46845130	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112328715	chr8:46845131-46845132	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4503109	chr8:46845143-46845144	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374487595	chr8:46845144-46845145	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4428682	chr8:46845146-46845147	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs202138594	chr8:46845149-46845150	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28787571	chr8:46845161-46845162	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs377368498	chr8:46845162-46845163	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4394404	chr8:46845163-46845164	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4872632	chr8:46845176-46845177	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4534137	chr8:46845177-46845178	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4612357	chr8:46845182-46845183	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373825814	chr8:46845191-46845192	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4370539	chr8:46845199-46845200	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4620297	chr8:46845204-46845205	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4313168	chr8:46845207-46845208	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75391618	chr8:46845215-46845216	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76938154	chr8:46845216-46845217	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76313148	chr8:46845218-46845219	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79895818	chr8:46845220-46845221	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs71249365	chr8:46845242-46845243	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4266661	chr8:46845252-46845253	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78338253	chr8:46845258-46845259	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4504647	chr8:46845268-46845269	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79865167	chr8:46845274-46845275	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4501589	chr8:46845281-46845282	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4475496	chr8:46845289-46845290	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4872886	chr8:46845290-46845291	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs4486211	chr8:46845297-46845298	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4872885	chr8:46845301-46845302	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554577510	chr8:46845305-46845306	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4872884	chr8:46845308-46845309	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77456504	chr8:46845314-46845315	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4422782	chr8:46845316-46845317	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79692699	chr8:46845317-46845318	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75781875	chr8:46845320-46845321	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79988356	chr8:46845321-46845322	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs77390600	chr8:46845324-46845325	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78174762	chr8:46845325-46845326	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78107199	chr8:46845327-46845328	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79579322	chr8:46845328-46845329	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74683230	chr8:46845333-46845334	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574601996	chr8:46845337-46845338	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78930781	chr8:46845339-46845340	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76880959	chr8:46845345-46845346	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543578594	chr8:46845349-46845350	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	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:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46841800-46847800	Weak transcription	Lung	lung
2	chr8:46843800-46845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:46843800-46845200	Weak transcription	Fetal Thymus	thymus
4	chr8:46843800-46845200	Weak transcription	Gastric	stomach
5	chr8:46843800-46845200	Weak transcription	Hela-S3	cervix
6	chr8:46843800-46845200	Weak transcription	HUVEC	blood vessel
7	chr8:46843800-46845200	Weak transcription	NHEK	skin
8	chr8:46843800-46845200	Weak transcription	NHLF	lung
9	chr8:46843800-46852400	Weak transcription	NHDF-Ad	bronchial
10	chr8:46844000-46845200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:46844000-46845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:46844000-46845200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:46844000-46845200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:46844000-46845200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:46844000-46845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:46844000-46845200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:46844000-46845200	Weak transcription	Brain Substantia Nigra	brain
18	chr8:46844000-46845200	Weak transcription	Fetal Brain Female	brain
19	chr8:46844000-46845200	Weak transcription	Fetal Kidney	kidney
20	chr8:46844000-46845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:46844000-46845200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:46844800-46845600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr8:46844800-46845600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr8:46844800-46845600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:46844800-46845600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr8:46844800-46845600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:46844800-46845600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:46844800-46845600	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr8:46844800-46845600	ZNF genes & repeats	Left Ventricle	heart
30	chr8:46844800-46845600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
31	chr8:46844800-46845600	ZNF genes & repeats	HepG2	liver
32	chr8:46844800-46845800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:46844800-46845800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr8:46844800-46845800	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr8:46844800-46845800	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr8:46844800-46845800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr8:46844800-46846000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:46844800-46846000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr8:46844800-46846000	ZNF genes & repeats	Liver	Liver
40	chr8:46844800-46846000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr8:46844800-46847400	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr8:46844800-46847400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr8:46844800-46848000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr8:46844800-46848000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr8:46844800-46848000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:46844800-46848000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:46844800-46848200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr8:46844800-46848200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr8:46844800-46850200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr8:46844800-46852800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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