Variant report

Variant	rs6600942
Chromosome Location	chr5:178069106-178069107
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178063343..178066239-chr5:178068092..178071855,3	K562	blood:
2	chr5:178068786..178070485-chr5:178285639..178288443,2	MCF-7	breast:
3	chr5:178068917..178070441-chr5:178081330..178082973,2	MCF-7	breast:
4	chr5:178053270..178056347-chr5:178066420..178069487,3	K562	blood:
5	chr5:178063122..178065248-chr5:178068092..178070072,3	K562	blood:
6	chr5:178067993..178069564-chr5:178084194..178086392,2	K562	blood:
7	chr5:178060070..178062652-chr5:178068693..178071518,2	MCF-7	breast:
8	chr5:178058537..178060660-chr5:178067167..178069118,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178338	Chromatin interaction
ENSG00000113240	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10035557	0.89[ASN][1000 genomes]
rs10051137	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10061455	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10064009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10065419	0.91[ASN][1000 genomes]
rs10070794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10073925	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10479501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740396	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11742564	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744815	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748909	0.89[ASN][1000 genomes]
rs11953546	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12654185	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12654187	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12719855	0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs13161074	0.88[ASN][1000 genomes]
rs13187977	0.89[ASN][1000 genomes]
rs13360296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1472457	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1967419	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2335442	0.89[ASN][1000 genomes]
rs262021	0.89[ASN][1000 genomes]
rs262028	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs262036	0.89[ASN][1000 genomes]
rs388749	0.90[ASN][1000 genomes]
rs4073633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077796	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4079109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4079111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4079112	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4301240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4413550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4418123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4437394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4521498	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4976798	0.89[ASN][1000 genomes]
rs60509476	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6866336	0.89[ASN][1000 genomes]
rs6866952	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6869889	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6871074	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874126	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6877022	0.84[ASN][1000 genomes]
rs6881073	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs721142	0.89[ASN][1000 genomes]
rs721143	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73353860	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73353883	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs752043	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7707891	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7715291	0.89[ASN][1000 genomes]
rs7720708	0.89[ASN][1000 genomes]
rs7736565	0.89[ASN][1000 genomes]
rs776153	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178065000-178069600	Weak transcription	Spleen	Spleen
2	chr5:178067400-178070400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:178067400-178070800	Enhancers	HMEC	breast
4	chr5:178067600-178070200	Enhancers	NHDF-Ad	bronchial
5	chr5:178067600-178070800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:178067600-178072400	Enhancers	Osteobl	bone
7	chr5:178068000-178070200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:178068600-178070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:178068800-178069800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:178068800-178070600	Enhancers	HUVEC	blood vessel
11	chr5:178068800-178070600	Enhancers	NH-A	brain
12	chr5:178069000-178069400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:178069000-178069400	Flanking Active TSS	Hela-S3	cervix
14	chr5:178069000-178069400	Flanking Active TSS	NHEK	skin
15	chr5:178069000-178069600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:178069000-178069600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:178069000-178070000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:178069000-178070200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:178069000-178070200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:178069000-178070200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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