Variant report

Variant	esv1801513
Chromosome Location	chr8:98996645-99009024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:98994617..98996981-chr8:99019389..99021453,2	MCF-7	breast:
2	chr8:99006609..99009034-chr8:99014356..99016713,2	MCF-7	breast:
3	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:
4	chr8:98929668..98932562-chr8:98996810..98999331,2	K562	blood:
5	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
6	chr8:98991788..98993846-chr8:99008923..99010508,2	MCF-7	breast:
7	chr8:98992573..98995424-chr8:98996000..98998679,2	MCF-7	breast:
8	chr8:99005306..99006937-chr8:99007959..99009953,2	MCF-7	breast:
9	chr8:98994950..98998234-chr8:99001793..99004607,3	K562	blood:
10	chr8:98994950..98998234-chr8:99001793..99004607,3	K562	blood:
11	chr8:99000977..99004318-chr8:99007120..99009154,3	K562	blood:
12	chr8:98983972..98985766-chr8:98995097..98997700,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132561	chromatin interactions

Extended variants
information (count: 409 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10096266	chr8:98996645-98996646	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554712395	chr8:98996671-98996672	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146999767	chr8:98996714-98996715	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574765663	chr8:98996719-98996720	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573728473	chr8:98996772-98996773	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542420355	chr8:98996778-98996779	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536516572	chr8:98996803-98996804	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575378412	chr8:98996826-98996827	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537774686	chr8:98996869-98996870	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544176620	chr8:98996879-98996880	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12680515	chr8:98996934-98996935	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564357386	chr8:98996940-98996941	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375652207	chr8:98996944-98996945	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200116575	chr8:98997000-98997001	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533376715	chr8:98997003-98997004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147413768	chr8:98997036-98997037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60346298	chr8:98997041-98997042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs55779959	chr8:98997042-98997043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529427428	chr8:98997071-98997072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549639941	chr8:98997107-98997108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562568952	chr8:98997155-98997156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531464202	chr8:98997191-98997192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184049309	chr8:98997212-98997213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571124419	chr8:98997258-98997259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533808801	chr8:98997334-98997335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186781767	chr8:98997351-98997352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576692172	chr8:98997397-98997398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567589037	chr8:98997405-98997406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6468607	chr8:98997437-98997438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555966769	chr8:98997457-98997458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575318041	chr8:98997519-98997520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6468608	chr8:98997581-98997582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558253651	chr8:98997629-98997630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76479798	chr8:98997697-98997698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147642386	chr8:98997709-98997710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540631828	chr8:98997723-98997724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191535848	chr8:98997744-98997745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541119557	chr8:98997797-98997798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574434311	chr8:98997830-98997831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114173823	chr8:98997872-98997873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555392825	chr8:98997935-98997936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563111330	chr8:98997938-98997939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142143316	chr8:98997951-98997952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12544193	chr8:98997986-98997987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541129121	chr8:98998004-98998005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370840432	chr8:98998045-98998046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34899856	chr8:98998061-98998062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145988513	chr8:98998106-98998107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368136363	chr8:98998126-98998127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575482885	chr8:98998151-98998152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
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
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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	22341455	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98986000-98997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:98987400-98998400	Weak transcription	Pancreas	Pancrea
3	chr8:98988000-99011800	Weak transcription	Aorta	Aorta
4	chr8:98989200-98997200	Weak transcription	Liver	Liver
5	chr8:98990600-98997200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:98990800-98997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:98991000-98997800	Enhancers	Osteobl	bone
8	chr8:98992200-98998200	Enhancers	NHLF	lung
9	chr8:98992600-99019400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:98994200-99014800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:98994400-98997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:98994400-99003200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:98994600-98997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:98994600-98997400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:98994600-98998000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:98994600-99008200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:98994600-99008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:98994600-99014200	Weak transcription	Ovary	ovary
19	chr8:98995200-98998200	Enhancers	NHDF-Ad	bronchial
20	chr8:98995200-99008000	Weak transcription	Fetal Stomach	stomach
21	chr8:98995600-98997200	Enhancers	HSMMtube	muscle
22	chr8:98995600-98997600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:98995600-98997600	Enhancers	HSMM	muscle
24	chr8:98995800-98996800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:98995800-98997000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:98995800-98997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:98995800-98997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:98995800-98997800	Enhancers	A549	lung
29	chr8:98995800-99003400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:98996000-98997000	Enhancers	HMEC	breast
31	chr8:98996000-98997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:98996000-98998200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:98996200-98997000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:98996200-98997000	Flanking Active TSS	NH-A	brain
35	chr8:98996200-98997800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:98996400-98996800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:98996400-98997600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:98996400-98998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:98996400-99006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:98996600-98997000	Enhancers	NHEK	skin
41	chr8:98996600-99006800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:98996800-98997000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:98996800-98997600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr8:98996800-98997600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:98996800-98997800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:98996800-98997800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:98997000-98997400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:98997000-98997800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:98997000-98997800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:98997000-98997800	Enhancers	Muscle Satellite Cultured Cells	--

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