Variant report

Variant	esv32677
Chromosome Location	chr8:48266834-48268145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48263378..48268282-chr8:48268711..48274538,7	MCF-7	breast:
2	chr8:48264421..48266947-chr8:48288790..48290307,2	MCF-7	breast:
3	chr8:48264373..48267024-chr8:48650520..48652799,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	chromatin interactions
ENSG00000221869	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562955308	chr8:48266878-48266879	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11294456	chr8:48266908-48266909	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373487301	chr8:48267012-48267013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs78759809	chr8:48267047-48267048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76363832	chr8:48267054-48267055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566911120	chr8:48267055-48267056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534512516	chr8:48267058-48267059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376149606	chr8:48267112-48267113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114462452	chr8:48267113-48267114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189438426	chr8:48267198-48267199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78802851	chr8:48267225-48267226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75169774	chr8:48267226-48267227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76614123	chr8:48267227-48267228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180993742	chr8:48267235-48267236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140110384	chr8:48267251-48267252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184136567	chr8:48267260-48267261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188245924	chr8:48267268-48267269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554756816	chr8:48267279-48267280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182080459	chr8:48267300-48267301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540539034	chr8:48267320-48267321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186367706	chr8:48267489-48267490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200989646	chr8:48267519-48267520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190760611	chr8:48267576-48267577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144090263	chr8:48267585-48267586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563017631	chr8:48267598-48267599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530228760	chr8:48267656-48267657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541913708	chr8:48267679-48267680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566694216	chr8:48267741-48267742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144410781	chr8:48267744-48267745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552871122	chr8:48267808-48267809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571037956	chr8:48267823-48267824	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369749633	chr8:48267839-48267840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397891658	chr8:48267840-48267841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs398007677	chr8:48267859-48267860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs5891238	chr8:48267889-48267890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs398086548	chr8:48267902-48267903	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs397701076	chr8:48267903-48267904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370653158	chr8:48267909-48267910	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs80226431	chr8:48267917-48267918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376380036	chr8:48267948-48267949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181483970	chr8:48267977-48267978	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535974162	chr8:48267988-48267989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186645714	chr8:48268033-48268034	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566671937	chr8:48268049-48268050	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140142314	chr8:48268051-48268052	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs16925242	chr8:48268063-48268064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533631463	chr8:48268064-48268065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577205563	chr8:48268140-48268141	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
2	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
4	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
5	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:48249800-48267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:48253400-48267200	Weak transcription	Lung	lung
10	chr8:48253400-48274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:48253600-48273800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:48254600-48268400	Weak transcription	Gastric	stomach
13	chr8:48256200-48274200	Weak transcription	Esophagus	oesophagus
14	chr8:48256400-48272200	Weak transcription	GM12878-XiMat	blood
15	chr8:48256400-48274200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:48256400-48276200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:48256400-48276800	Weak transcription	Dnd41	blood
18	chr8:48256400-48281000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:48256600-48267400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:48256600-48273000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
22	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:48264400-48267000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:48264400-48276000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:48264800-48271000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:48265000-48267000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:48265000-48267000	Enhancers	HSMM	muscle
28	chr8:48265000-48267000	Enhancers	NH-A	brain
29	chr8:48265000-48267200	Enhancers	Liver	Liver
30	chr8:48265000-48268200	Enhancers	Stomach Mucosa	stomach
31	chr8:48265000-48273200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:48265400-48267200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:48265600-48267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:48265600-48274200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:48265600-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:48265800-48267000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr8:48265800-48267000	Enhancers	Brain Anterior Caudate	brain
38	chr8:48265800-48267000	Enhancers	Brain Hippocampus Middle	brain
39	chr8:48265800-48267000	Enhancers	HepG2	liver
40	chr8:48265800-48267200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:48265800-48267200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:48265800-48268200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr8:48266000-48267000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:48266000-48267000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr8:48266200-48267000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:48266200-48267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:48266200-48267200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:48266200-48267200	Weak transcription	Placenta	Placenta
49	chr8:48266200-48267200	Weak transcription	Left Ventricle	heart
50	chr8:48266200-48267200	Weak transcription	Pancreas	Pancrea

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