Variant report

Variant	esv3480256
Chromosome Location	chr8:1431569-1431855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184301045	chr8:1431581-1431582	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147415846	chr8:1431582-1431583	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539643590	chr8:1431604-1431605	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386720629	chr8:1431605-1431606	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572993702	chr8:1431606-1431607	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116207465	chr8:1431607-1431608	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562029797	chr8:1431614-1431615	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140775158	chr8:1431618-1431619	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113918667	chr8:1431639-1431640	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111737267	chr8:1431645-1431646	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187901509	chr8:1431659-1431660	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552263665	chr8:1431666-1431667	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559643719	chr8:1431669-1431670	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs367615557	chr8:1431684-1431685	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs193178805	chr8:1431697-1431698	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs374298459	chr8:1431699-1431700	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs548567243	chr8:1431708-1431709	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368178757	chr8:1431710-1431711	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112848061	chr8:1431725-1431726	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537024618	chr8:1431726-1431727	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs540586199	chr8:1431731-1431732	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs561842369	chr8:1431737-1431738	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550644589	chr8:1431746-1431747	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs371759383	chr8:1431752-1431753	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570555147	chr8:1431771-1431772	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529137502	chr8:1431783-1431784	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539489809	chr8:1431785-1431786	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57328050	chr8:1431789-1431790	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs60734105	chr8:1431791-1431792	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569061677	chr8:1431802-1431803	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555349832	chr8:1431806-1431807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190672827	chr8:1431816-1431817	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs57507362	chr8:1431823-1431824	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563303219	chr8:1431827-1431828	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs59019520	chr8:1431829-1431830	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11270904	chr8:1431830-1431831	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs145102828	chr8:1431831-1431832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533096334	chr8:1431843-1431844	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528663921	chr8:1431850-1431851	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1427400-1431600	Weak transcription	Spleen	Spleen
2	chr8:1427400-1434200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:1428000-1434400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:1428600-1431600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1428600-1431600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:1428600-1431800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:1428600-1431800	Enhancers	GM12878-XiMat	blood
8	chr8:1428600-1432800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:1428800-1433400	Weak transcription	Fetal Brain Female	brain
10	chr8:1430000-1437400	Enhancers	Fetal Brain Male	brain
11	chr8:1430200-1431600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:1430200-1431800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:1430200-1432400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr8:1430200-1434400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:1430600-1431600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr8:1430600-1432000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:1430600-1432400	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:1430800-1431600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:1430800-1431800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr8:1431000-1431600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:1431000-1431600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:1431000-1431800	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr8:1431000-1432200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:1431200-1431600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr8:1431400-1431800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:1431400-1432000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:1431400-1432400	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:1431600-1431800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:1431600-1431800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:1431600-1431800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:1431600-1431800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1431600-1431800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr8:1431600-1431800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:1431600-1432000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:1431600-1432400	Enhancers	Brain Germinal Matrix	brain
36	chr8:1431600-1432400	Enhancers	Pancreas	Pancrea
37	chr8:1431600-1432400	Enhancers	Spleen	Spleen
38	chr8:1431600-1433200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:1431800-1432000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1431800-1432000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr8:1431800-1432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:1431800-1432400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:1431800-1433000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:1431800-1433000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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