Variant report

Variant	esv3445437
Chromosome Location	chr8:1112547-1115921
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	chr8:1100395..1102279-chr8:1115435..1117687,2	K562	blood:

Extended variants
information (count: 245 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144569908	chr8:1112588-1112589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550662952	chr8:1112629-1112630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535541991	chr8:1112677-1112678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529400597	chr8:1112709-1112710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78752200	chr8:1112725-1112726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112761766	chr8:1112751-1112752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543600061	chr8:1112756-1112757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546563595	chr8:1112773-1112774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148843077	chr8:1112774-1112775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373960585	chr8:1112783-1112784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573951622	chr8:1112787-1112788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575398773	chr8:1112795-1112796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538033277	chr8:1112805-1112806	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs143565541	chr8:1112807-1112808	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs544183645	chr8:1112814-1112815	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs114767470	chr8:1112837-1112838	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs184315948	chr8:1112858-1112859	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs372054139	chr8:1112861-1112862	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs375139785	chr8:1112868-1112869	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs560456780	chr8:1112877-1112878	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573181301	chr8:1112878-1112879	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs542119798	chr8:1112883-1112884	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs561881841	chr8:1112892-1112893	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs530761477	chr8:1112908-1112909	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs148030129	chr8:1112923-1112924	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs115335344	chr8:1112952-1112953	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs533001130	chr8:1112969-1112970	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs546278882	chr8:1113005-1113006	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566434840	chr8:1113024-1113025	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562761114	chr8:1113027-1113028	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529558835	chr8:1113053-1113054	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549299857	chr8:1113057-1113058	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558138883	chr8:1113064-1113065	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114254253	chr8:1113070-1113071	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375264797	chr8:1113076-1113077	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370260040	chr8:1113086-1113087	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533066470	chr8:1113100-1113101	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534252963	chr8:1113175-1113176	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189091775	chr8:1113180-1113181	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141809249	chr8:1113233-1113234	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs543029483	chr8:1113240-1113241	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559892663	chr8:1113315-1113316	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555730163	chr8:1113330-1113331	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs575598178	chr8:1113355-1113356	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs544083765	chr8:1113375-1113376	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7813013	chr8:1113382-1113383	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532904565	chr8:1113388-1113389	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35994125	chr8:1113396-1113397	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540287614	chr8:1113420-1113421	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559800325	chr8:1113437-1113438	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1104400-1113000	Weak transcription	Fetal Brain Male	brain
2	chr8:1109800-1113000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1110600-1112800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1111400-1115600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:1112400-1113000	Enhancers	Stomach Smooth Muscle	stomach
6	chr8:1112800-1113000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:1112800-1113000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:1112800-1114600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1113000-1113200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:1113000-1113200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:1113000-1113200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr8:1113000-1113400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr8:1113000-1113400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:1113000-1113400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr8:1113000-1113600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr8:1113000-1113800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:1113000-1114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:1113000-1114000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:1113000-1114000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr8:1113000-1114000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:1113000-1114200	Active TSS	Osteobl	bone
22	chr8:1113000-1114400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr8:1113000-1114400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr8:1113000-1116200	Enhancers	Fetal Brain Male	brain
25	chr8:1113200-1113400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr8:1113200-1113400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr8:1113200-1113400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1113200-1113400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:1113200-1113400	Active TSS	Adipose Nuclei	Adipose
30	chr8:1113200-1113400	Flanking Active TSS	Right Ventricle	heart
31	chr8:1113200-1113600	Enhancers	Brain Germinal Matrix	brain
32	chr8:1113200-1113800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:1113200-1113800	Bivalent/Poised TSS	Fetal Lung	lung
34	chr8:1113200-1114000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:1113200-1114000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr8:1113200-1114000	Active TSS	Left Ventricle	heart
37	chr8:1113200-1114000	Active TSS	Thymus	Thymus
38	chr8:1113200-1114200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:1113200-1114200	Active TSS	Psoas Muscle	Psoas
40	chr8:1113200-1114200	Active TSS	Right Atrium	heart
41	chr8:1113400-1113600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr8:1113400-1113600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr8:1113400-1113600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:1113400-1113600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:1113400-1113600	Flanking Active TSS	Liver	Liver
46	chr8:1113400-1113600	Bivalent Enhancer	Fetal Brain Female	brain
47	chr8:1113400-1113600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr8:1113400-1113600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr8:1113400-1113600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr8:1113400-1113600	Bivalent Enhancer	Stomach Mucosa	stomach

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