Variant report

Variant	esv3377133
Chromosome Location	chr8:43058895-43063393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181713922	chr8:43058902-43058903	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563868913	chr8:43059051-43059052	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558829336	chr8:43059055-43059056	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529600901	chr8:43059082-43059083	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572395493	chr8:43059128-43059129	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534705444	chr8:43059150-43059151	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554795094	chr8:43059180-43059181	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185625764	chr8:43059184-43059185	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543577023	chr8:43059195-43059196	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557515814	chr8:43059268-43059269	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73569598	chr8:43059286-43059287	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189924751	chr8:43059309-43059310	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367909161	chr8:43059327-43059328	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561675684	chr8:43059342-43059343	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559225578	chr8:43059364-43059365	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528053080	chr8:43059392-43059393	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143969718	chr8:43059444-43059445	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561928564	chr8:43059459-43059460	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530808713	chr8:43059502-43059503	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180730162	chr8:43059535-43059536	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570620179	chr8:43059536-43059537	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561746612	chr8:43059550-43059551	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533019922	chr8:43059552-43059553	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143887227	chr8:43059564-43059565	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112988617	chr8:43059610-43059611	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527258799	chr8:43059655-43059656	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373280378	chr8:43059670-43059671	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372437073	chr8:43059675-43059676	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554560279	chr8:43059683-43059684	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75014429	chr8:43059698-43059699	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537327638	chr8:43059740-43059741	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186111734	chr8:43059748-43059749	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142996024	chr8:43059756-43059757	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546093234	chr8:43059785-43059786	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555474706	chr8:43059943-43059944	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552987922	chr8:43059946-43059947	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547124415	chr8:43059961-43059962	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9298632	chr8:43059985-43059986	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541978864	chr8:43060039-43060040	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561644514	chr8:43060052-43060053	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368752832	chr8:43060074-43060075	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78562889	chr8:43060101-43060102	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568740671	chr8:43060124-43060125	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373865134	chr8:43060125-43060126	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370218326	chr8:43060139-43060140	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191787931	chr8:43060147-43060148	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564232843	chr8:43060151-43060152	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533101386	chr8:43060168-43060169	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184036101	chr8:43060255-43060256	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566129679	chr8:43060284-43060285	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43030400-43059200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:43044400-43059400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:43044400-43059600	Strong transcription	Fetal Brain Female	brain
4	chr8:43046800-43061000	Weak transcription	Stomach Mucosa	stomach
5	chr8:43050200-43061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:43051000-43059600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:43051000-43059800	Strong transcription	Aorta	Aorta
8	chr8:43055000-43060800	Weak transcription	Fetal Kidney	kidney
9	chr8:43055000-43064400	Weak transcription	HMEC	breast
10	chr8:43055400-43064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:43056000-43059000	Weak transcription	A549	lung
12	chr8:43056400-43060800	Weak transcription	Fetal Heart	heart
13	chr8:43056400-43060800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:43056600-43059000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:43056600-43059000	Weak transcription	HSMMtube	muscle
16	chr8:43056600-43060800	Weak transcription	Fetal Brain Male	brain
17	chr8:43056600-43063400	Weak transcription	NHEK	skin
18	chr8:43056800-43061200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:43057000-43060800	Weak transcription	Fetal Lung	lung
20	chr8:43057000-43061000	Weak transcription	Brain Angular Gyrus	brain
21	chr8:43057200-43059000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:43057200-43059600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:43057400-43059000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:43057400-43059000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:43057400-43059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:43057400-43060000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:43057400-43060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:43057400-43061000	Weak transcription	Primary T cells from cord blood	blood
29	chr8:43057400-43061200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:43057600-43059000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:43057600-43059200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:43057600-43059200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:43057600-43059200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:43057600-43059200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:43057600-43059200	Weak transcription	Lung	lung
36	chr8:43057600-43059200	Weak transcription	Pancreas	Pancrea
37	chr8:43057600-43059200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:43057600-43059400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:43057600-43059400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:43057600-43059400	Weak transcription	Fetal Intestine Large	intestine
41	chr8:43057600-43059400	Weak transcription	Left Ventricle	heart
42	chr8:43057600-43059600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:43057600-43060000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:43057600-43060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:43057600-43060800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:43057600-43060800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:43057600-43060800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:43057600-43060800	Weak transcription	Thymus	Thymus
49	chr8:43057600-43061000	Weak transcription	Liver	Liver
50	chr8:43057600-43061000	Weak transcription	Esophagus	oesophagus

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