Variant report

Variant	nsv611307
Chromosome Location	chr8:49081709-49093889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49084383..49085325-chr8:49233271..49234265,2	K562	blood:
2	chr8:49033433..49034632-chr8:49084511..49085096,3	MCF-7	breast:
3	chr8:49084592..49085141-chr8:49837959..49838538,2	MCF-7	breast:
4	chr8:49084485..49085310-chr8:49837868..49838738,3	K562	blood:
5	chr7:120724755..120727043-chr8:49082625..49084125,2	K562	blood:
6	chr8:49084388..49085321-chr8:49837765..49838724,3	MCF-7	breast:

Extended variants
information (count: 514 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7014393	chr8:49081709-49081710	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553217282	chr8:49081768-49081769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577826113	chr8:49081774-49081775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111799955	chr8:49081776-49081777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545152545	chr8:49081779-49081780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564246515	chr8:49081803-49081804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190721370	chr8:49081804-49081805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543433027	chr8:49081858-49081859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561551714	chr8:49081863-49081864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528857310	chr8:49081867-49081868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570241024	chr8:49081891-49081892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182909973	chr8:49081917-49081918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565932532	chr8:49081919-49081920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188014248	chr8:49081965-49081966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551279856	chr8:49081975-49081976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34804322	chr8:49081976-49081977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35766247	chr8:49081977-49081978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398007696	chr8:49081988-49081989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201797194	chr8:49081993-49081994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570168700	chr8:49082017-49082018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7843537	chr8:49082018-49082019	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs202076655	chr8:49082061-49082062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113774340	chr8:49082062-49082063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192818306	chr8:49082083-49082084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567339090	chr8:49082084-49082085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534660547	chr8:49082104-49082105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146238449	chr8:49082114-49082115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546340231	chr8:49082150-49082151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537986337	chr8:49082172-49082173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545230279	chr8:49082174-49082175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376128671	chr8:49082223-49082224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182735335	chr8:49082227-49082228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139010454	chr8:49082232-49082233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568107004	chr8:49082239-49082240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142967050	chr8:49082240-49082241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528895935	chr8:49082279-49082280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533557037	chr8:49082292-49082293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147460812	chr8:49082308-49082309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575158892	chr8:49082325-49082326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117425280	chr8:49082338-49082339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187808492	chr8:49082386-49082387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551582399	chr8:49082403-49082404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569773214	chr8:49082405-49082406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530699665	chr8:49082409-49082410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368028597	chr8:49082483-49082484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193128904	chr8:49082485-49082486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567377996	chr8:49082494-49082495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534744868	chr8:49082559-49082560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577080627	chr8:49082625-49082626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545680293	chr8:49082653-49082654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
22q11 deletion syndrome	20357662	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49080200-49084600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:49081600-49082400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:49082400-49086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:49082600-49088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:49084200-49085400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:49084400-49084800	Enhancers	Osteobl	bone
7	chr8:49084400-49085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49084400-49085200	Enhancers	NHLF	lung
9	chr8:49084400-49085400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:49084400-49085400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:49084400-49085600	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:49084400-49086400	Enhancers	Fetal Lung	lung
13	chr8:49084400-49090600	Enhancers	Fetal Stomach	stomach
14	chr8:49084600-49084800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:49084600-49084800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:49084600-49084800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
17	chr8:49084600-49084800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:49084600-49084800	Enhancers	Fetal Kidney	kidney
19	chr8:49084600-49084800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:49084600-49085000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:49084600-49085000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:49084600-49085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:49084600-49085200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:49084600-49085200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:49084600-49085200	Enhancers	Adipose Nuclei	Adipose
26	chr8:49084600-49085200	Enhancers	Liver	Liver
27	chr8:49084600-49085200	Enhancers	Brain Angular Gyrus	brain
28	chr8:49084600-49085200	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:49084600-49085200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:49084600-49085200	Enhancers	Stomach Mucosa	stomach
31	chr8:49084600-49085200	Enhancers	HepG2	liver
32	chr8:49084600-49085200	Enhancers	HMEC	breast
33	chr8:49084600-49085200	Enhancers	NHEK	skin
34	chr8:49084600-49085400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:49084600-49085400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:49084600-49085400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:49084600-49085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:49084600-49086800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:49084800-49085000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr8:49084800-49085200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:49084800-49085200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:49084800-49086400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:49084800-49086400	Weak transcription	Fetal Kidney	kidney
44	chr8:49084800-49088000	Weak transcription	Osteobl	bone
45	chr8:49085000-49085200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:49085000-49085200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr8:49085000-49085400	Enhancers	Brain Anterior Caudate	brain
48	chr8:49085000-49085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:49085200-49085400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:49085200-49087200	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links