Variant report

Variant	esv3435007
Chromosome Location	chr8:38894325-38894790
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	chr8:38853505..38856171-chr8:38893000..38895883,3	K562	blood:
2	chr8:38853640..38855398-chr8:38893873..38896745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168615	chromatin interactions
ENSG00000169490	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35534138	chr8:38894334-38894335	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112588693	chr8:38894371-38894372	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79051123	chr8:38894384-38894385	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575425182	chr8:38894386-38894387	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187965013	chr8:38894449-38894450	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549485475	chr8:38894489-38894490	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569715195	chr8:38894561-38894562	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140133348	chr8:38894569-38894570	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs58876607	chr8:38894592-38894593	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192992648	chr8:38894599-38894600	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373422716	chr8:38894602-38894603	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184194687	chr8:38894631-38894632	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565963855	chr8:38894669-38894670	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188945191	chr8:38894725-38894726	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13253767	chr8:38894766-38894767	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13253770	chr8:38894768-38894769	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21364760	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38869600-38902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:38875800-38895400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
4	chr8:38882800-38895000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:38882800-38895000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:38883000-38895000	Weak transcription	Spleen	Spleen
7	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:38885000-38895400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:38885000-38895400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:38885000-38896400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:38885000-38899400	Weak transcription	Liver	Liver
12	chr8:38885200-38895200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:38885200-38895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:38885200-38902800	Weak transcription	Psoas Muscle	Psoas
15	chr8:38885400-38904400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:38885600-38903600	Weak transcription	Fetal Brain Female	brain
17	chr8:38885800-38895200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:38885800-38911200	Weak transcription	Ovary	ovary
19	chr8:38886000-38899400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:38886400-38895000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:38886400-38895000	Weak transcription	Small Intestine	intestine
22	chr8:38886400-38895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:38886400-38904400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:38886600-38895200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:38887000-38895200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:38887200-38895000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:38887400-38895200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:38887400-38911200	Weak transcription	Aorta	Aorta
29	chr8:38887800-38895400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:38887800-38895400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:38888000-38895000	Weak transcription	Placenta	Placenta
32	chr8:38888000-38895400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:38888000-38895600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:38888000-38899600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:38888200-38895200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:38888200-38897000	Weak transcription	Fetal Intestine Large	intestine
37	chr8:38888200-38904400	Weak transcription	GM12878-XiMat	blood
38	chr8:38888400-38895400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:38888400-38895800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:38888400-38905400	Weak transcription	Primary B cells from cord blood	blood
41	chr8:38888800-38901600	Weak transcription	Fetal Brain Male	brain
42	chr8:38889000-38899600	Weak transcription	Fetal Lung	lung
43	chr8:38889600-38894400	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr8:38890000-38895800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:38890000-38904400	Weak transcription	Gastric	stomach
46	chr8:38890200-38895000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:38890200-38895000	Weak transcription	Fetal Stomach	stomach
48	chr8:38890200-38895000	Weak transcription	Right Atrium	heart
49	chr8:38890200-38895200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:38890200-38895200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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