Variant report

Variant	esv3439706
Chromosome Location	chr8:67611798-67614296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67611856..67613738-chr8:67622198..67624981,2	MCF-7	breast:
2	chr8:67613138..67618312-chr8:67623269..67626188,5	MCF-7	breast:
3	chr8:67602104..67604206-chr8:67612057..67614964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199954726	chr8:67611812-67611813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563762433	chr8:67611848-67611849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139510909	chr8:67611902-67611903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546372650	chr8:67611971-67611972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559806073	chr8:67611978-67611979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146659665	chr8:67611981-67611982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548577460	chr8:67612107-67612108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567288463	chr8:67612108-67612109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114698892	chr8:67612177-67612178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112639657	chr8:67612220-67612221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529149132	chr8:67612244-67612245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569361891	chr8:67612245-67612246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186305064	chr8:67612274-67612275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558295322	chr8:67612306-67612307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565858552	chr8:67612321-67612322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534948026	chr8:67612330-67612331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35691710	chr8:67612346-67612347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191592939	chr8:67612396-67612397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554555398	chr8:67612405-67612406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139778887	chr8:67612422-67612423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181702479	chr8:67612432-67612433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144526305	chr8:67612445-67612446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373976190	chr8:67612455-67612456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186408205	chr8:67612479-67612480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191568753	chr8:67612485-67612486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200893182	chr8:67612490-67612491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559924413	chr8:67612551-67612552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13255822	chr8:67612572-67612573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182908788	chr8:67612623-67612624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542549785	chr8:67612627-67612628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562237927	chr8:67612633-67612634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529640968	chr8:67612640-67612641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71561294	chr8:67612670-67612671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111759652	chr8:67612671-67612672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74572826	chr8:67612683-67612684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs398047240	chr8:67612684-67612685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186826825	chr8:67612697-67612698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs57351080	chr8:67612701-67612702	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189546953	chr8:67612735-67612736	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532051342	chr8:67612755-67612756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551966716	chr8:67612823-67612824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565903818	chr8:67612827-67612828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545048762	chr8:67612872-67612873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544621991	chr8:67612877-67612878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548511468	chr8:67612907-67612908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568314938	chr8:67612917-67612918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537453692	chr8:67612953-67612954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557359467	chr8:67612956-67612957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577287660	chr8:67612957-67612958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539972941	chr8:67612969-67612970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
2	chr8:67580600-67624400	Weak transcription	Ovary	ovary
3	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
4	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
5	chr8:67581600-67624000	Weak transcription	Fetal Brain Male	brain
6	chr8:67582400-67614200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:67587600-67614200	Weak transcription	Fetal Heart	heart
8	chr8:67598800-67614200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:67602400-67614200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:67602800-67623800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:67602800-67624000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:67603000-67612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:67603000-67615200	Weak transcription	Fetal Lung	lung
14	chr8:67603000-67623800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:67603200-67611800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:67603200-67614200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:67603200-67617800	Weak transcription	GM12878-XiMat	blood
18	chr8:67603200-67623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:67603200-67624600	Weak transcription	Lung	lung
20	chr8:67603400-67613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:67603400-67619600	Weak transcription	Brain Angular Gyrus	brain
22	chr8:67603400-67623000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:67603400-67624200	Weak transcription	Fetal Brain Female	brain
24	chr8:67603400-67624400	Weak transcription	Placenta	Placenta
25	chr8:67604400-67623600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:67604400-67623800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:67604400-67624200	Weak transcription	HSMMtube	muscle
28	chr8:67604400-67624400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:67604600-67624400	Weak transcription	Fetal Thymus	thymus
30	chr8:67604800-67616200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:67604800-67616600	Weak transcription	Liver	Liver
32	chr8:67604800-67623600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:67605200-67623400	Weak transcription	Primary B cells from cord blood	blood
34	chr8:67605200-67623800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:67605200-67624000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:67605400-67615000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:67605600-67616600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:67605600-67623200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:67605600-67624200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:67605600-67624400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:67605800-67617400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:67606200-67624200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:67606200-67624200	Weak transcription	Brain Germinal Matrix	brain
44	chr8:67606400-67623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:67606400-67623800	Weak transcription	Fetal Intestine Small	intestine
46	chr8:67606400-67624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:67607600-67623200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:67607600-67623600	Weak transcription	Fetal Intestine Large	intestine
49	chr8:67608000-67624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:67611200-67624000	Weak transcription	Fetal Stomach	stomach

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