Variant report

Variant	esv2754
Chromosome Location	chr8:1412460-1412707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151232425	chr8:1412465-1412466	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372831392	chr8:1412469-1412470	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375913415	chr8:1412476-1412477	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77534150	chr8:1412482-1412483	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72507645	chr8:1412485-1412486	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74354693	chr8:1412498-1412499	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs74728762	chr8:1412501-1412502	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372124804	chr8:1412509-1412510	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75032215	chr8:1412513-1412514	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566553435	chr8:1412514-1412515	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77985912	chr8:1412515-1412516	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11781950	chr8:1412517-1412518	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs11778408	chr8:1412524-1412525	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs73672723	chr8:1412533-1412534	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78918423	chr8:1412545-1412546	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538005606	chr8:1412546-1412547	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558350176	chr8:1412547-1412548	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs138814886	chr8:1412551-1412552	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75448211	chr8:1412552-1412553	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs66489805	chr8:1412557-1412558	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs199653616	chr8:1412559-1412560	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs72507646	chr8:1412566-1412567	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73172557	chr8:1412577-1412578	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76299330	chr8:1412578-1412579	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553801407	chr8:1412579-1412580	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78523771	chr8:1412581-1412582	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77303340	chr8:1412650-1412651	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370080907	chr8:1412666-1412667	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149102661	chr8:1412673-1412674	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200731012	chr8:1412678-1412679	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373223782	chr8:1412687-1412688	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377312090	chr8:1412688-1412689	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1411600-1416000	Enhancers	Spleen	Spleen
2	chr8:1411800-1413000	Enhancers	Right Ventricle	heart
3	chr8:1412000-1412600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:1412200-1412600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr8:1412200-1412600	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr8:1412200-1412600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:1412200-1412800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1412200-1412800	Weak transcription	Left Ventricle	heart
9	chr8:1412400-1412600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr8:1412400-1412600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr8:1412400-1412800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr8:1412400-1413000	Enhancers	Pancreas	Pancrea
13	chr8:1412600-1413000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
14	chr8:1412600-1413600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1412600-1413800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:1412600-1416400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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