Variant report

Variant	esv2487551
Chromosome Location	chr8:54911494-54912959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54906019..54908425-chr8:54912790..54915264,2	K562	blood:
2	chr8:54906501..54909723-chr8:54910534..54914290,4	K562	blood:
3	chr8:54909346..54912136-chr8:54916629..54919127,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191092263	chr8:54911516-54911517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145261524	chr8:54911521-54911522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367818389	chr8:54911522-54911523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546834730	chr8:54911526-54911527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149129071	chr8:54911527-54911528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528185018	chr8:54911531-54911532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551536638	chr8:54911545-54911546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571241866	chr8:54911554-54911555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182878736	chr8:54911555-54911556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556924157	chr8:54911559-54911560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370506188	chr8:54911564-54911565	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559633903	chr8:54911571-54911572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374201923	chr8:54911580-54911581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367761427	chr8:54911584-54911585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567053555	chr8:54911585-54911586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187520572	chr8:54911592-54911593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572732020	chr8:54911605-54911606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192990145	chr8:54911607-54911608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184842938	chr8:54911615-54911616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146390647	chr8:54911620-54911621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575351502	chr8:54911649-54911650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544242092	chr8:54911677-54911678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561340495	chr8:54911680-54911681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7818005	chr8:54911702-54911703	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7821654	chr8:54911703-54911704	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560654468	chr8:54911721-54911722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532783179	chr8:54911733-54911734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552819459	chr8:54911734-54911735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532987732	chr8:54911739-54911740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530632670	chr8:54911753-54911754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550302102	chr8:54911779-54911780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374134136	chr8:54911785-54911786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76703237	chr8:54911788-54911789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567292564	chr8:54911803-54911804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77520415	chr8:54911805-54911806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57357613	chr8:54911806-54911807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373054169	chr8:54911807-54911808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74431591	chr8:54911824-54911825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536137226	chr8:54911838-54911839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552875830	chr8:54911864-54911865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559316403	chr8:54911871-54911872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566449541	chr8:54911947-54911948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12056381	chr8:54912001-54912002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188126812	chr8:54912002-54912003	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558342392	chr8:54912005-54912006	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575290769	chr8:54912031-54912032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141599505	chr8:54912052-54912053	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554657316	chr8:54912058-54912059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561443474	chr8:54912072-54912073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192654420	chr8:54912080-54912081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	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
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
12	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:54891000-54911600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:54892000-54911600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
16	chr8:54893200-54911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:54895200-54912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:54895200-54913800	Strong transcription	Dnd41	blood
19	chr8:54897800-54914000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:54898400-54911800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr8:54898400-54913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:54898400-54915600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:54898800-54914400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:54899000-54912200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:54899000-54914400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:54899000-54915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:54899000-54916000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:54899000-54916600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:54899000-54916600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:54899800-54918200	Weak transcription	Small Intestine	intestine
32	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
33	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:54900800-54913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
37	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
38	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
39	chr8:54902400-54912000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:54902800-54912200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:54903000-54912400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
46	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
47	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
48	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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