Variant report

Variant	esv3329833
Chromosome Location	chr8:8230566-8231055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8230228..8231802-chr8:8235911..8238856,2	MCF-7	breast:
2	chr8:8146134..8147870-chr8:8228066..8231062,2	MCF-7	breast:
3	chr8:8230050..8233398-chr8:8236877..8239521,3	K562	blood:
4	chr8:8211524..8213292-chr8:8230745..8232671,2	K562	blood:
5	chr8:8230050..8231632-chr8:8238021..8240569,2	K562	blood:
6	chr8:8230480..8232108-chr8:8232397..8235661,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2979133	chr8:8230625-8230626	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544467608	chr8:8230637-8230638	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561428018	chr8:8230676-8230677	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2979132	chr8:8230677-8230678	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2945853	chr8:8230680-8230681	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2945852	chr8:8230700-8230701	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566953175	chr8:8230729-8230730	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201596197	chr8:8230757-8230758	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369621448	chr8:8230801-8230802	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74778126	chr8:8230816-8230817	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35882531	chr8:8230841-8230842	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs55788031	chr8:8230850-8230851	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552241367	chr8:8230877-8230878	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538266923	chr8:8230888-8230889	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2921009	chr8:8230912-8230913	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs386721945	chr8:8230925-8230926	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567456311	chr8:8230926-8230927	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2979131	chr8:8230927-8230928	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139658929	chr8:8230952-8230953	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572580701	chr8:8230991-8230992	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538381650	chr8:8230999-8231000	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558244611	chr8:8231006-8231007	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116304863	chr8:8231030-8231031	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543874830	chr8:8231032-8231033	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370043228	chr8:8231036-8231037	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
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
low-grade B-cell lymphoma tumor	18367492	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
Colorectal cancer	16774939	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
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8220200-8233000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8220400-8230600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:8220400-8231200	Weak transcription	Hela-S3	cervix
4	chr8:8220400-8231800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:8220400-8232000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:8220400-8233600	Weak transcription	Aorta	Aorta
7	chr8:8220400-8233600	Weak transcription	Fetal Stomach	stomach
8	chr8:8220400-8233600	Weak transcription	Lung	lung
9	chr8:8220400-8233800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:8220400-8234000	Weak transcription	Pancreas	Pancrea
11	chr8:8220400-8237400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:8220400-8241800	Weak transcription	NHDF-Ad	bronchial
13	chr8:8220600-8234000	Weak transcription	Dnd41	blood
14	chr8:8221000-8233600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:8221000-8239800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:8221800-8236600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:8221800-8240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:8222000-8240600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:8222400-8231800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:8222400-8233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:8222600-8231200	Weak transcription	Placenta	Placenta
22	chr8:8222600-8240000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:8222600-8240200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:8222600-8240400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:8222800-8240000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:8223000-8240000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:8223400-8231400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:8224600-8233400	Weak transcription	Spleen	Spleen
29	chr8:8225800-8231400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:8225800-8239800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr8:8226200-8233600	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:8226200-8234000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:8226400-8240000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr8:8226800-8231800	Weak transcription	Colonic Mucosa	Colon
35	chr8:8226800-8232200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:8226800-8236800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr8:8227000-8231600	Weak transcription	Stomach Mucosa	stomach
38	chr8:8227400-8231000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:8227600-8231400	Strong transcription	Fetal Intestine Large	intestine
40	chr8:8227600-8232800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:8227600-8239800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:8228200-8231600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:8228200-8232200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:8228200-8233400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:8228200-8239600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:8228400-8230600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:8228400-8231000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:8228400-8231200	Weak transcription	Adipose Nuclei	Adipose
49	chr8:8228400-8231200	Strong transcription	Fetal Intestine Small	intestine
50	chr8:8228400-8231400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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