Variant report

Variant	esv2764087
Chromosome Location	chr8:57919479-57929203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:57905698..57907406-chr8:57928385..57931050,2	MCF-7	breast:
2	chr8:57905876..57907923-chr8:57918669..57921216,2	K562	blood:
3	chr8:57921411..57924157-chr8:57925835..57928345,2	K562	blood:
4	chr8:57921411..57924157-chr8:57925835..57928345,2	K562	blood:

Variant related genes	Relation type
ENSG00000104331	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10958517	chr8:57919479-57919480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561986601	chr8:57919507-57919508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76881681	chr8:57919513-57919514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180764188	chr8:57919539-57919540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542974216	chr8:57919559-57919560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79829014	chr8:57919622-57919623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111998149	chr8:57919640-57919641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185888756	chr8:57919793-57919794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546714461	chr8:57919803-57919804	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541489561	chr8:57919805-57919806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77502022	chr8:57919884-57919885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192413295	chr8:57919892-57919893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549143166	chr8:57919966-57919967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543433709	chr8:57919967-57919968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560517801	chr8:57919970-57919971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567607345	chr8:57920028-57920029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552972476	chr8:57920033-57920034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563730303	chr8:57920073-57920074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532544837	chr8:57920134-57920135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138247436	chr8:57920142-57920143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200717156	chr8:57920157-57920158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138706473	chr8:57920166-57920167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374009260	chr8:57920170-57920171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116323378	chr8:57920232-57920233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74822404	chr8:57920250-57920251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56122395	chr8:57920261-57920262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551998223	chr8:57920263-57920264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548345734	chr8:57920271-57920272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571245520	chr8:57920274-57920275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537185000	chr8:57920340-57920341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142337972	chr8:57920362-57920363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146434623	chr8:57920368-57920369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182086678	chr8:57920371-57920372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148319678	chr8:57920405-57920406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141480442	chr8:57920413-57920414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6984989	chr8:57920415-57920416	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538825381	chr8:57920449-57920450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150553847	chr8:57920469-57920470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs578015921	chr8:57920516-57920517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576766761	chr8:57920526-57920527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187129978	chr8:57920584-57920585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573706330	chr8:57920588-57920589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113848322	chr8:57920603-57920604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539197326	chr8:57920605-57920606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141804692	chr8:57920680-57920681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528801183	chr8:57920684-57920685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551668341	chr8:57920706-57920707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76554874	chr8:57920715-57920716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs55643831	chr8:57920760-57920761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550668411	chr8:57920797-57920798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57918200-57920000	Enhancers	Fetal Brain Male	brain
2	chr8:57918400-57922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:57918800-57919800	Weak transcription	Fetal Brain Female	brain
4	chr8:57919800-57920400	Enhancers	Fetal Brain Female	brain
5	chr8:57920000-57922200	Weak transcription	Fetal Brain Male	brain
6	chr8:57920400-57922800	Weak transcription	Fetal Brain Female	brain
7	chr8:57922000-57923600	Enhancers	HUVEC	blood vessel
8	chr8:57922200-57922800	Enhancers	Fetal Brain Male	brain
9	chr8:57922400-57923800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:57922600-57923400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:57922600-57923400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:57922600-57923400	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:57922600-57923400	Enhancers	Brain Substantia Nigra	brain
14	chr8:57922800-57923200	Weak transcription	Fetal Brain Male	brain
15	chr8:57922800-57923600	Enhancers	Fetal Brain Female	brain
16	chr8:57923200-57923800	Enhancers	Fetal Brain Male	brain
17	chr8:57923400-57926800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:57923400-57927200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:57923600-57928000	Weak transcription	Fetal Brain Female	brain
20	chr8:57923800-57926800	Weak transcription	Fetal Brain Male	brain
21	chr8:57925800-57926200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:57925800-57926600	Enhancers	NHEK	skin
23	chr8:57925800-57926800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:57925800-57927000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:57925800-57927400	Enhancers	Adipose Nuclei	Adipose
26	chr8:57925800-57927400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr8:57925800-57927400	Enhancers	HMEC	breast
28	chr8:57925800-57928400	Enhancers	Fetal Muscle Leg	muscle
29	chr8:57926000-57926800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:57926000-57927200	Enhancers	Spleen	Spleen
31	chr8:57926000-57927400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:57926200-57927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:57926400-57926800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:57926600-57927200	Enhancers	HSMM	muscle
35	chr8:57926600-57927400	Enhancers	Placenta	Placenta
36	chr8:57926800-57927000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr8:57926800-57927400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:57926800-57927600	Enhancers	Brain Substantia Nigra	brain
39	chr8:57926800-57928200	Enhancers	Brain Germinal Matrix	brain
40	chr8:57926800-57928400	Enhancers	Fetal Brain Male	brain
41	chr8:57927000-57927600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:57927200-57927800	Enhancers	Brain Cingulate Gyrus	brain
43	chr8:57927200-57927800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr8:57927200-57928600	Enhancers	Brain Hippocampus Middle	brain
45	chr8:57927400-57928000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:57928000-57928200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:57928000-57928200	Enhancers	Fetal Brain Female	brain
48	chr8:57928000-57928200	Enhancers	Fetal Stomach	stomach

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