Variant report

Variant	esv3424719
Chromosome Location	chr8:103826526-103828524
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103541696..103544133-chr8:103825198..103827958,2	MCF-7	breast:
2	chr8:103828251..103829930-chr8:103875061..103877912,2	MCF-7	breast:
3	chr8:103826311..103829977-chr8:103833527..103835576,3	MCF-7	breast:
4	chr8:103250548..103251076-chr8:103826948..103827481,2	K562	blood:
5	chr8:103251231..103253314-chr8:103826347..103828464,2	MCF-7	breast:
6	chr8:103826760..103829148-chr8:103830331..103832216,2	MCF-7	breast:
7	chr8:103665509..103667747-chr8:103826919..103829138,2	K562	blood:
8	chr8:102462115..102464304-chr8:103824112..103827007,2	K562	blood:
9	chr8:103639437..103639955-chr8:103826613..103827335,2	MCF-7	breast:
10	chr8:103423888..103426011-chr8:103826622..103828461,3	MCF-7	breast:
11	chr8:103597143..103598299-chr8:103826485..103827530,5	MCF-7	breast:
12	chr8:103663769..103664703-chr8:103826560..103827518,4	MCF-7	breast:
13	chr8:103826343..103827971-chr8:103875378..103877956,2	MCF-7	breast:
14	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
15	chr8:103446716..103447551-chr8:103826538..103827278,2	MCF-7	breast:
16	chr8:103646169..103646881-chr8:103826904..103827439,2	MCF-7	breast:
17	chr8:103597686..103598475-chr8:103827015..103827557,2	K562	blood:
18	chr8:103023024..103025926-chr8:103825006..103827127,2	K562	blood:
19	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
20	chr8:103597185..103598098-chr8:103826640..103827436,2	MCF-7	breast:
21	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
22	chr8:103611533..103613612-chr8:103826955..103829615,2	MCF-7	breast:
23	chr8:103639510..103640361-chr8:103826541..103827175,2	MCF-7	breast:
24	chr8:103663684..103664744-chr8:103826225..103827430,7	K562	blood:
25	chr8:102658229..102659095-chr8:103826592..103827138,2	MCF-7	breast:
26	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048392	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000246263	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376591213	chr8:103826555-103826556	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs549607380	chr8:103826579-103826580	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs186336734	chr8:103826584-103826585	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs369251372	chr8:103826588-103826589	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs553240273	chr8:103826616-103826617	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs571750959	chr8:103826632-103826633	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs539682668	chr8:103826647-103826648	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs200914421	chr8:103826694-103826695	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs79087365	chr8:103826750-103826751	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs139389341	chr8:103826769-103826770	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs543353678	chr8:103826791-103826792	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs142982306	chr8:103826838-103826839	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs573593952	chr8:103826851-103826852	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs541017129	chr8:103826868-103826869	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs559050114	chr8:103826919-103826920	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs527864848	chr8:103826924-103826925	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs190348136	chr8:103826962-103826963	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs73701529	chr8:103826972-103826973	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181566050	chr8:103826999-103827000	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs374579650	chr8:103827020-103827021	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs549453194	chr8:103827043-103827044	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs372792191	chr8:103827072-103827073	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs567946502	chr8:103827083-103827084	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs2916559	chr8:103827084-103827085	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs186060750	chr8:103827095-103827096	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs571637240	chr8:103827156-103827157	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs147464242	chr8:103827241-103827242	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs566086377	chr8:103827350-103827351	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs71574077	chr8:103827352-103827353	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs34554741	chr8:103827353-103827354	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs533666776	chr8:103827364-103827365	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs551045792	chr8:103827379-103827380	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs2436850	chr8:103827380-103827381	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs199592751	chr8:103827382-103827383	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs570194278	chr8:103827433-103827434	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs200812595	chr8:103827468-103827469	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs2436849	chr8:103827548-103827549	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs377762871	chr8:103827562-103827563	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs138315923	chr8:103827575-103827576	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs534355106	chr8:103827595-103827596	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs141874171	chr8:103827626-103827627	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs150643452	chr8:103827750-103827751	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs544714476	chr8:103827756-103827757	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs191154612	chr8:103827777-103827778	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs183395668	chr8:103827790-103827791	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs139145436	chr8:103827808-103827809	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs561462137	chr8:103827833-103827834	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs187519945	chr8:103827842-103827843	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs546953287	chr8:103827847-103827848	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs565279064	chr8:103827858-103827859	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103822800-103837400	Weak transcription	Gastric	stomach
2	chr8:103823000-103826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:103823000-103826600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:103823000-103826600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:103823000-103826800	Weak transcription	Left Ventricle	heart
6	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
12	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
13	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
14	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
15	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
16	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
17	chr8:103823600-103826800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:103823600-103826800	Weak transcription	Brain Anterior Caudate	brain
19	chr8:103823600-103826800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:103823600-103826800	Weak transcription	Fetal Kidney	kidney
21	chr8:103823600-103826800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:103823600-103827000	Enhancers	Hela-S3	cervix
23	chr8:103823600-103827200	Enhancers	Fetal Thymus	thymus
24	chr8:103823600-103827800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:103823600-103834800	Weak transcription	Fetal Brain Female	brain
26	chr8:103823600-103837400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:103823800-103826600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:103823800-103826600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:103823800-103826600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:103823800-103826600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:103823800-103826600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:103823800-103826600	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:103823800-103826600	Weak transcription	Fetal Brain Male	brain
37	chr8:103823800-103826600	Weak transcription	Fetal Stomach	stomach
38	chr8:103823800-103826800	Weak transcription	Primary B cells from cord blood	blood
39	chr8:103823800-103826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:103823800-103826800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:103823800-103826800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:103823800-103826800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:103823800-103831600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:103823800-103837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:103823800-103837800	Weak transcription	NHDF-Ad	bronchial
46	chr8:103824000-103826600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:103824000-103826600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:103824000-103826600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:103824000-103826600	Weak transcription	Fetal Lung	lung
50	chr8:103824000-103826600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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