Variant report

Variant	esv3355952
Chromosome Location	chr8:48792999-48797297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48787397..48789499-chr8:48791391..48793520,2	K562	blood:
2	chr8:48795937..48796818-chr8:49837936..49838689,2	MCF-7	breast:
3	chr8:48783935..48786261-chr8:48795994..48797522,2	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558979142	chr8:48793022-48793023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190983062	chr8:48793045-48793046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551697939	chr8:48793069-48793070	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534662894	chr8:48793070-48793071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535026814	chr8:48793078-48793079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563160000	chr8:48793270-48793271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376602875	chr8:48793336-48793337	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530812630	chr8:48793343-48793344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549043276	chr8:48793352-48793353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558050223	chr8:48793396-48793397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375503620	chr8:48793401-48793402	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368324711	chr8:48793442-48793443	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8178110	chr8:48793477-48793478	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561127546	chr8:48793540-48793541	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8178109	chr8:48793586-48793587	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs80310632	chr8:48793603-48793604	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74978967	chr8:48793604-48793605	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76621055	chr8:48793607-48793608	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57817228	chr8:48793622-48793623	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374959967	chr8:48793623-48793624	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537259154	chr8:48793624-48793625	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78966948	chr8:48793626-48793627	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112857100	chr8:48793627-48793628	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200428890	chr8:48793628-48793629	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201252096	chr8:48793630-48793631	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557265846	chr8:48793632-48793633	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77604660	chr8:48793635-48793636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576137407	chr8:48793640-48793641	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542947867	chr8:48793645-48793646	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78450205	chr8:48793646-48793647	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539156078	chr8:48793648-48793649	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550928142	chr8:48793664-48793665	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201067369	chr8:48793665-48793666	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149372732	chr8:48793668-48793669	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74924757	chr8:48793672-48793673	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536939765	chr8:48793729-48793730	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144753755	chr8:48793768-48793769	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578068955	chr8:48793843-48793844	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs35034320	chr8:48793888-48793889	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566829733	chr8:48793911-48793912	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs78010936	chr8:48793925-48793926	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs369789074	chr8:48793928-48793929	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184077261	chr8:48793943-48793944	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544805536	chr8:48793992-48793993	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs55735910	chr8:48794005-48794006	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376474173	chr8:48794014-48794015	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369411997	chr8:48794048-48794049	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575172711	chr8:48794090-48794091	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142924740	chr8:48794116-48794117	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs8178108	chr8:48794171-48794172	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
Lung cancer	18438408	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
Pancreatic endocrine tumor	17639061	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
low-grade B-cell lymphoma tumor	18367492	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
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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:48739800-48793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
16	chr8:48756600-48793400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:48761000-48793400	Strong transcription	Primary B cells from cord blood	blood
20	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
21	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
22	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:48778600-48793400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:48778800-48795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:48779600-48793400	Strong transcription	Fetal Intestine Large	intestine
32	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:48782800-48793400	Weak transcription	Gastric	stomach
35	chr8:48782800-48794800	Weak transcription	Right Ventricle	heart
36	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:48783000-48794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:48783000-48794800	Weak transcription	Esophagus	oesophagus
39	chr8:48783200-48793400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:48783600-48793400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:48783800-48816200	Strong transcription	Liver	Liver
42	chr8:48784000-48816400	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:48784000-48818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:48784800-48817400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:48785200-48799000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr8:48785400-48793600	Strong transcription	Left Ventricle	heart
48	chr8:48785400-48796600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:48785400-48799000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:48785400-48799800	Strong transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links