Variant report

Variant	rs478959
Chromosome Location	chr6:72192375-72192376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:72093320..72094313-chr6:72192220..72193121,6	MCF-7	breast:
2	chr6:72186892..72189303-chr6:72189669..72192556,2	K562	blood:
3	chr6:72093333..72094331-chr6:72192117..72193060,3	MCF-7	breast:
4	chr6:72189935..72191890-chr6:72192010..72194805,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10155718	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1738070	0.84[EUR][1000 genomes]
rs4141421	0.84[EUR][1000 genomes]
rs472572	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472935	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs493265	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs494938	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs495002	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs503993	0.94[ASN][1000 genomes]
rs504139	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs504983	0.94[ASN][1000 genomes]
rs537876	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558116	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs573317	0.83[EUR][1000 genomes]
rs701698	0.84[EUR][1000 genomes]
rs701699	0.84[EUR][1000 genomes]
rs852919	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852920	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852923	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852924	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852926	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852927	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs852928	0.84[EUR][1000 genomes]
rs852942	0.81[ASN][1000 genomes]
rs852943	0.81[ASN][1000 genomes]
rs852947	0.81[ASN][1000 genomes]
rs852962	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72183000-72192600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:72185400-72192600	Enhancers	HSMM	muscle
3	chr6:72186800-72193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:72187000-72192600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:72187000-72193000	Enhancers	Adipose Nuclei	Adipose
6	chr6:72187800-72193200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:72189200-72192400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:72189200-72192400	Enhancers	NHLF	lung
9	chr6:72189200-72192600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:72189200-72192600	Enhancers	HSMMtube	muscle
11	chr6:72189200-72192600	Enhancers	NHDF-Ad	bronchial
12	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:72189200-72193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:72189400-72192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:72189400-72195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:72189800-72193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:72189800-72196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix
21	chr6:72190800-72192600	Enhancers	HMEC	breast
22	chr6:72191000-72192400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
24	chr6:72191800-72196000	Weak transcription	NHEK	skin
25	chr6:72192000-72196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:72192000-72196000	Weak transcription	NH-A	brain
27	chr6:72192000-72196000	Weak transcription	Osteobl	bone
28	chr6:72192000-72200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links