Variant report

Variant	esv3428911
Chromosome Location	chr8:8861935-8862241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8608069..8609942-chr8:8861282..8862933,2	MCF-7	breast:
2	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
3	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:
4	chr8:8743895..8745799-chr8:8861981..8863756,2	K562	blood:
5	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
6	chr8:8756284..8757870-chr8:8861137..8863458,2	K562	blood:

Variant related genes	Relation type
ENSG00000104626	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185960451	chr8:8861947-8861948	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192119174	chr8:8861954-8861955	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73522592	chr8:8861989-8861990	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs71201904	chr8:8862021-8862022	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201228557	chr8:8862023-8862024	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183823414	chr8:8862030-8862031	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78451576	chr8:8862076-8862077	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533046783	chr8:8862087-8862088	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200501503	chr8:8862096-8862097	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147616418	chr8:8862097-8862098	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187939793	chr8:8862128-8862129	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531277047	chr8:8862143-8862144	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541933577	chr8:8862179-8862180	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374431832	chr8:8862193-8862194	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs202065420	chr8:8862206-8862207	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62495493	chr8:8862214-8862215	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561847550	chr8:8862219-8862220	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191998945	chr8:8862238-8862239	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
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
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
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:8860000-8862000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:8860000-8863400	Active TSS	K562	blood
9	chr8:8860200-8862000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:8860200-8862200	Active TSS	Hela-S3	cervix
11	chr8:8860600-8862000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:8860800-8862000	Flanking Active TSS	HUVEC	blood vessel
13	chr8:8860800-8862200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:8861000-8862000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:8861000-8862000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:8861000-8862000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:8861000-8862000	Flanking Active TSS	Dnd41	blood
18	chr8:8861200-8862000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:8861200-8862000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:8861200-8862000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:8861200-8862200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:8861200-8862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
24	chr8:8861400-8862000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:8861400-8862000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:8861400-8862000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:8861400-8862000	Flanking Active TSS	A549	lung
28	chr8:8861400-8862000	Flanking Active TSS	HMEC	breast
29	chr8:8861400-8862200	Enhancers	Primary B cells from cord blood	blood
30	chr8:8861400-8862200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:8861600-8862000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:8861600-8862000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:8861600-8862000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:8861600-8862000	Enhancers	Primary hematopoietic stem cells	blood
36	chr8:8861600-8862000	Enhancers	Liver	Liver
37	chr8:8861600-8862200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:8861600-8862200	Enhancers	Left Ventricle	heart
39	chr8:8861600-8862200	Enhancers	Lung	lung
40	chr8:8861600-8863600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:8861600-8863800	Weak transcription	Fetal Intestine Large	intestine
42	chr8:8861600-8866600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:8861600-8866600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
47	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:8861800-8862000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:8861800-8862000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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