Variant report

Variant	rs526661
Chromosome Location	chr6:13356359-13356360
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13353690..13357420-chr6:13573859..13576718,3	MCF-7	breast:
2	chr6:13356076..13357964-chr6:13573194..13574935,2	MCF-7	breast:
3	chr6:13355838..13357537-chr6:13511461..13514141,2	K562	blood:
4	chr6:13353670..13357830-chr6:13359815..13362315,4	MCF-7	breast:
5	chr6:13348758..13351407-chr6:13355309..13358400,4	K562	blood:
6	chr6:13355357..13357068-chr6:13380690..13383506,2	MCF-7	breast:
7	chr6:13336578..13338357-chr6:13354951..13356461,2	K562	blood:
8	chr6:13342888..13344804-chr6:13355121..13358047,2	MCF-7	breast:
9	chr6:13356302..13358883-chr6:13419456..13420974,2	K562	blood:
10	chr6:13351433..13354250-chr6:13354364..13357182,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948641	1.00[EUR][1000 genomes]
rs11754614	1.00[EUR][1000 genomes]
rs11755431	1.00[EUR][1000 genomes]
rs11756770	1.00[EUR][1000 genomes]
rs11756942	1.00[EUR][1000 genomes]
rs11757262	1.00[EUR][1000 genomes]
rs11758235	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11759443	1.00[EUR][1000 genomes]
rs16873780	1.00[EUR][1000 genomes]
rs2439559	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2496171	1.00[EUR][1000 genomes]
rs28495821	1.00[EUR][1000 genomes]
rs35114287	1.00[EUR][1000 genomes]
rs4452644	1.00[EUR][1000 genomes]
rs6911459	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6912427	1.00[EUR][1000 genomes]
rs6920849	1.00[EUR][1000 genomes]
rs6925659	1.00[EUR][1000 genomes]
rs73359121	1.00[EUR][1000 genomes]
rs754439	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7742713	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs878560	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9463696	1.00[EUR][1000 genomes]
rs9474025	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9474036	1.00[EUR][1000 genomes]
rs9474040	1.00[EUR][1000 genomes]
rs9474061	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13350800-13364600	Weak transcription	Aorta	Aorta
2	chr6:13351600-13357000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:13351600-13357600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:13352000-13356800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:13352000-13357200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:13353400-13359400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:13353600-13358400	Enhancers	Fetal Thymus	thymus
8	chr6:13353800-13356400	Enhancers	Placenta	Placenta
9	chr6:13353800-13356800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:13353800-13357200	Enhancers	HUVEC	blood vessel
11	chr6:13353800-13357800	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:13353800-13358200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:13353800-13359000	Enhancers	HSMM	muscle
14	chr6:13353800-13359400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:13354000-13356600	Enhancers	Right Atrium	heart
16	chr6:13354000-13357000	Enhancers	Fetal Heart	heart
17	chr6:13354000-13357200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:13354000-13357800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:13354000-13358200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:13354000-13358200	Enhancers	NHLF	lung
21	chr6:13354000-13359200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:13354200-13356400	Enhancers	Fetal Muscle Leg	muscle
23	chr6:13354200-13356800	Enhancers	Small Intestine	intestine
24	chr6:13354200-13358400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:13354200-13359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:13354400-13357800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:13354400-13358000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:13354400-13358000	Enhancers	Osteobl	bone
29	chr6:13354600-13356600	Enhancers	Brain Anterior Caudate	brain
30	chr6:13354600-13357400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr6:13354600-13357400	Enhancers	Fetal Brain Male	brain
32	chr6:13354600-13358000	Enhancers	NHDF-Ad	bronchial
33	chr6:13354600-13358200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:13354800-13356400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:13354800-13356400	Enhancers	Hela-S3	cervix
36	chr6:13354800-13356600	Flanking Active TSS	NH-A	brain
37	chr6:13354800-13357400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:13354800-13358200	Enhancers	K562	blood
39	chr6:13354800-13359200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:13355000-13356400	Enhancers	Brain Cingulate Gyrus	brain
41	chr6:13355000-13356600	Flanking Active TSS	NHEK	skin
42	chr6:13355000-13358400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:13355200-13356400	Enhancers	Colon Smooth Muscle	Colon
44	chr6:13355200-13358000	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:13355400-13356400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr6:13355400-13356400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:13355400-13356400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr6:13355400-13356800	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:13355400-13356800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:13355400-13356800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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