Variant report

Variant	nsv599334
Chromosome Location	chr5:106789764-106806438
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	chr5:106791385..106793644-chr5:106796602..106798149,2	K562	blood:
2	chr5:106673737..106675745-chr5:106790045..106792526,2	MCF-7	breast:
3	chr5:106802607..106804706-chr5:106804946..106806862,2	MCF-7	breast:
4	chr5:106791385..106793644-chr5:106796602..106798149,2	K562	blood:
5	chr5:106796368..106798711-chr5:106802191..106804169,2	K562	blood:
6	chr5:106802607..106804706-chr5:106804946..106806862,2	MCF-7	breast:
7	chr5:106775777..106777698-chr5:106792943..106795923,2	MCF-7	breast:
8	chr5:106796368..106798711-chr5:106802191..106804169,2	K562	blood:
9	chr5:106796505..106798929-chr5:107006795..107009330,2	MCF-7	breast:
10	chr5:106794093..106796803-chr5:106857848..106860551,2	MCF-7	breast:
11	chr5:106803456..106805007-chr5:106904785..106907231,2	K562	blood:
12	chr5:106804269..106806001-chr5:106811560..106813893,2	MCF-7	breast:

No data

Extended variants
information (count: 641 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1835111	chr5:106789764-106789765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372815278	chr5:106789772-106789773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570966474	chr5:106789814-106789815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539993522	chr5:106789883-106789884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147800160	chr5:106789890-106789891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569030273	chr5:106789904-106789905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569800577	chr5:106789962-106789963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78863220	chr5:106789976-106789977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141269392	chr5:106790010-106790011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571997177	chr5:106790020-106790021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531651713	chr5:106790034-106790035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534619830	chr5:106790036-106790037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574179309	chr5:106790086-106790087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28476760	chr5:106790107-106790108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557983150	chr5:106790112-106790113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548042889	chr5:106790194-106790195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577781087	chr5:106790237-106790238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181318395	chr5:106790294-106790295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs152584	chr5:106790327-106790328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576159924	chr5:106790342-106790343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541920375	chr5:106790348-106790349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568250123	chr5:106790405-106790406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185529065	chr5:106790423-106790424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190730801	chr5:106790443-106790444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369619324	chr5:106790444-106790445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559172294	chr5:106790483-106790484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563215418	chr5:106790488-106790489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115779	chr5:106790512-106790513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564773751	chr5:106790553-106790554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533583624	chr5:106790555-106790556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111757518	chr5:106790629-106790630	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570259861	chr5:106790670-106790671	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535584556	chr5:106790735-106790736	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146956081	chr5:106790768-106790769	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565540458	chr5:106790797-106790798	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575323899	chr5:106790859-106790860	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534580638	chr5:106790860-106790861	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369358258	chr5:106790876-106790877	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557781013	chr5:106790902-106790903	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs3909463	chr5:106790903-106790904	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs137934716	chr5:106790911-106790912	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs372801172	chr5:106790949-106790950	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544429714	chr5:106790973-106790974	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192418627	chr5:106791006-106791007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375758080	chr5:106791011-106791012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs541967208	chr5:106791038-106791039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76142742	chr5:106791042-106791043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372288469	chr5:106791055-106791056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140688067	chr5:106791060-106791061	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572372340	chr5:106791108-106791109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106772600-106790800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:106774600-106790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106777400-106790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:106779400-106790400	Weak transcription	HSMM	muscle
5	chr5:106782800-106790600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:106785800-106791400	Weak transcription	Dnd41	blood
7	chr5:106786400-106790600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:106786400-106790600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:106786400-106790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:106786600-106790600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:106786800-106790600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:106786800-106790600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:106786800-106790600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:106787000-106791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:106788600-106791800	Weak transcription	Fetal Thymus	thymus
16	chr5:106789200-106790600	Enhancers	Fetal Heart	heart
17	chr5:106789200-106790600	Weak transcription	Fetal Stomach	stomach
18	chr5:106789200-106790600	Enhancers	A549	lung
19	chr5:106789200-106790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:106789200-106793000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:106789200-106793000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:106789400-106790000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:106789400-106790000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:106789400-106790000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:106789400-106790000	Enhancers	Fetal Lung	lung
26	chr5:106789600-106789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:106789600-106789800	Enhancers	Fetal Kidney	kidney
28	chr5:106789600-106790000	Enhancers	NHEK	skin
29	chr5:106789600-106790600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:106789600-106790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:106789600-106790600	Weak transcription	Placenta	Placenta
32	chr5:106789600-106790600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:106789600-106790600	Weak transcription	GM12878-XiMat	blood
34	chr5:106789600-106792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:106789600-106792400	Weak transcription	Esophagus	oesophagus
36	chr5:106789600-106793200	Enhancers	HMEC	breast
37	chr5:106789600-106800000	Weak transcription	Aorta	Aorta
38	chr5:106789800-106790600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:106789800-106790600	Weak transcription	Fetal Kidney	kidney
40	chr5:106790000-106790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:106790000-106790400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:106790000-106790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:106790000-106790400	Weak transcription	Fetal Lung	lung
44	chr5:106790000-106790400	Weak transcription	NHEK	skin
45	chr5:106790400-106792200	Enhancers	HSMM	muscle
46	chr5:106790400-106792200	Enhancers	NHEK	skin
47	chr5:106790400-106792400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:106790400-106792600	Enhancers	Fetal Lung	lung
49	chr5:106790400-106793200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:106790400-106793200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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