Variant report

Variant	esv2602152
Chromosome Location	chr8:107510405-107512046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107511052..107513324-chr8:107531040..107533004,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183283020	chr8:107510435-107510436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566389147	chr8:107510531-107510532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117530023	chr8:107510575-107510576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548209686	chr8:107510580-107510581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575848912	chr8:107510593-107510594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142791275	chr8:107510669-107510670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555187629	chr8:107510782-107510783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188602082	chr8:107510789-107510790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568121524	chr8:107510803-107510804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559134660	chr8:107510890-107510891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577128470	chr8:107510891-107510892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537138351	chr8:107510900-107510901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578233093	chr8:107511007-107511008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544285307	chr8:107511044-107511045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200069382	chr8:107511110-107511111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201213672	chr8:107511111-107511112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202002056	chr8:107511112-107511113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200150515	chr8:107511113-107511114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559894277	chr8:107511116-107511117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527529302	chr8:107511306-107511307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551843742	chr8:107511322-107511323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570461517	chr8:107511376-107511377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71514113	chr8:107511416-107511417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531288593	chr8:107511545-107511546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144639956	chr8:107511566-107511567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568084204	chr8:107511593-107511594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2510833	chr8:107511614-107511615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148055912	chr8:107511628-107511629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570611956	chr8:107511638-107511639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567060936	chr8:107511650-107511651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7459717	chr8:107511717-107511718	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs558964041	chr8:107511778-107511779	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577290250	chr8:107511818-107511819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544560170	chr8:107511854-107511855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552820288	chr8:107511912-107511913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs16892421	chr8:107511933-107511934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2123546	chr8:107511940-107511941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374718273	chr8:107511941-107511942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560054274	chr8:107511947-107511948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141650725	chr8:107511991-107511992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs193201348	chr8:107512021-107512022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107475400-107511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:107503600-107513400	Weak transcription	Spleen	Spleen
3	chr8:107504000-107513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:107505800-107513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:107506200-107511600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:107506800-107511800	Weak transcription	GM12878-XiMat	blood
7	chr8:107508600-107511800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:107508800-107511800	Weak transcription	Brain Angular Gyrus	brain
9	chr8:107509200-107513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:107509400-107510600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:107509400-107511600	Weak transcription	NHDF-Ad	bronchial
12	chr8:107509400-107512000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:107510600-107511600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:107510800-107511200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:107510800-107512200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:107510800-107512600	Enhancers	Brain Anterior Caudate	brain
17	chr8:107510800-107513800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:107510800-107514400	Enhancers	Brain Hippocampus Middle	brain
19	chr8:107511000-107511600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:107511200-107511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:107511400-107511600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:107511400-107511600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:107511600-107511800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:107511600-107511800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr8:107511600-107512200	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:107511600-107512200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:107511600-107512200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:107511600-107512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:107511600-107512600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:107511600-107512600	Enhancers	NH-A	brain
31	chr8:107511600-107513200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:107511600-107513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:107511600-107513600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:107511600-107514000	Enhancers	Fetal Kidney	kidney
35	chr8:107511600-107514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:107511600-107514400	Enhancers	NHDF-Ad	bronchial
37	chr8:107511600-107514400	Enhancers	Osteobl	bone
38	chr8:107511600-107514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:107511800-107512000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:107511800-107512000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:107511800-107512000	Enhancers	Brain Angular Gyrus	brain
42	chr8:107511800-107512200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:107511800-107512200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr8:107511800-107512400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:107511800-107512400	Flanking Active TSS	GM12878-XiMat	blood
46	chr8:107511800-107512800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:107511800-107514000	Enhancers	HMEC	breast
48	chr8:107512000-107512200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:107512000-107512200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:107512000-107512200	Enhancers	HUES48 Cell Line	embryonic stem cell

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