Variant report

Variant	esv3443449
Chromosome Location	chr8:10915967-10918515
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	chr8:10905368..10906915-chr8:10917694..10919634,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150560271	chr8:10916015-10916016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527691225	chr8:10916038-10916039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569779718	chr8:10916045-10916046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139547367	chr8:10916046-10916047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369954844	chr8:10916102-10916103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552364732	chr8:10916103-10916104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543634978	chr8:10916105-10916106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373580877	chr8:10916125-10916126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553336712	chr8:10916138-10916139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564046865	chr8:10916148-10916149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6601554	chr8:10916156-10916157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535895109	chr8:10916169-10916170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369614408	chr8:10916186-10916187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373193432	chr8:10916204-10916205	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144585745	chr8:10916214-10916215	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564726924	chr8:10916231-10916232	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573387773	chr8:10916249-10916250	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546449071	chr8:10916276-10916277	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7016414	chr8:10916285-10916286	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370353142	chr8:10916299-10916300	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144192855	chr8:10916309-10916310	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7357362	chr8:10916313-10916314	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140074566	chr8:10916318-10916319	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200928370	chr8:10916327-10916328	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58662603	chr8:10916355-10916356	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190835346	chr8:10916366-10916367	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143737030	chr8:10916370-10916371	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182061549	chr8:10916387-10916388	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528333618	chr8:10916411-10916412	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151275588	chr8:10916463-10916464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568363455	chr8:10916493-10916494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186593030	chr8:10916504-10916505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376324888	chr8:10916512-10916513	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557343547	chr8:10916521-10916522	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7016760	chr8:10916523-10916524	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs140537391	chr8:10916555-10916556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558006657	chr8:10916577-10916578	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61475470	chr8:10916606-10916607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397959595	chr8:10916608-10916609	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6996300	chr8:10916688-10916689	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4841487	chr8:10916704-10916705	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs536123890	chr8:10916721-10916722	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555594321	chr8:10916727-10916728	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386722236	chr8:10916740-10916741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114728178	chr8:10916751-10916752	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6997523	chr8:10916754-10916755	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150460975	chr8:10916762-10916763	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201609843	chr8:10916772-10916773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6996458	chr8:10916775-10916776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142658277	chr8:10916779-10916780	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10907400-10916200	Weak transcription	Brain Germinal Matrix	brain
2	chr8:10911200-10916400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:10911600-10916200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:10911600-10916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:10912600-10916400	Weak transcription	HSMMtube	muscle
6	chr8:10913600-10916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:10913600-10916600	Weak transcription	Lung	lung
8	chr8:10915000-10916200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10915200-10916400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10915200-10916400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:10915200-10916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10915200-10916600	Weak transcription	Gastric	stomach
13	chr8:10915400-10916400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:10916200-10916400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr8:10916200-10916400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10916200-10916400	Enhancers	Brain Anterior Caudate	brain
17	chr8:10916200-10916400	Enhancers	Brain Germinal Matrix	brain
18	chr8:10916200-10917400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:10916400-10916600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:10916400-10916600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr8:10916400-10916600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:10916400-10916600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr8:10916400-10916600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr8:10916400-10916600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:10916400-10916600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:10916400-10916600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:10916400-10916600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr8:10916400-10916600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:10916400-10916600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:10916400-10916600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:10916400-10916600	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:10916400-10916600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:10916400-10916600	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr8:10916400-10916600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr8:10916400-10916600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr8:10916400-10916600	Bivalent Enhancer	Fetal Stomach	stomach
37	chr8:10916400-10916600	Enhancers	Pancreas	Pancrea
38	chr8:10916400-10916600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr8:10916400-10916600	Bivalent/Poised TSS	Stomach Mucosa	stomach
40	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr8:10916400-10916800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:10916400-10916800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr8:10916400-10916800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr8:10916400-10916800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr8:10916400-10916800	Enhancers	Fetal Heart	heart
50	chr8:10916400-10916800	Flanking Active TSS	HSMMtube	muscle

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