Variant report

Variant	rs6942558
Chromosome Location	chr7:116901454-116901455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr7:116901413-116901590	K562	blood:	n/a	chr7:116901427-116901439

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116900629..116902783-chr7:116915433..116917547,2	K562	blood:
2	chr7:116897348..116898939-chr7:116900425..116902478,2	K562	blood:
3	chr7:116894506..116897239-chr7:116900320..116902736,2	K562	blood:
4	chr7:116899564..116901689-chr7:116917927..116920462,2	K562	blood:
5	chr7:116899094..116902058-chr7:116908237..116910049,2	MCF-7	breast:
6	7:115890993-115892266..7:116894301-116914960	GM12878	blood:
7	7:116754962-116765597..7:116894301-116914960	Hela-S3	cervix:

No data

Variant related genes	Relation type
MTND4P6	TF binding region
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10226864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10235236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10245615	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10254103	0.88[ASN][1000 genomes]
rs10255896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10256129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10271623	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10280067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10953839	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11760825	0.91[EUR][1000 genomes]
rs11981089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12706145	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs13224335	0.97[ASN][1000 genomes]
rs13246951	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468655	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1860698	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2402176	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs38902	0.95[ASN][1000 genomes]
rs38909	0.97[ASN][1000 genomes]
rs38916	0.95[ASN][1000 genomes]
rs6466605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6466607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6944152	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6946781	0.86[CHB][hapmap]
rs6947786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6958283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6965467	0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6968768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6974937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6975501	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6979800	0.82[AMR][1000 genomes]
rs718738	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs739693	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7457422	0.93[CHB][hapmap];0.95[JPT][hapmap]
rs7776963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7795841	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7802930	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116900400-116902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:116900400-116903400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:116900600-116902200	Weak transcription	NHEK	skin
4	chr7:116900600-116902800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:116900600-116903600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:116900800-116902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:116900800-116902800	Weak transcription	HMEC	breast
8	chr7:116900800-116904600	Weak transcription	NHDF-Ad	bronchial

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