Variant report

Variant	rs10963930
Chromosome Location	chr9:19047687-19047688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr9:19047595-19048764	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:19047624..19049710-chr9:19124952..19127835,2	MCF-7	breast:
2	chr9:19047048..19050954-chr9:19228997..19232024,5	K562	blood:
3	chr9:19032362..19034123-chr9:19046838..19049376,2	MCF-7	breast:

Variant related genes	Relation type
RRAGA	TF binding region
ENSG00000147872	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000155875	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10465047	0.83[ASN][1000 genomes]
rs10511670	0.87[ASN][1000 genomes]
rs10511671	0.93[ASN][1000 genomes]
rs10811112	0.87[ASN][1000 genomes]
rs10811113	0.83[ASN][1000 genomes]
rs10963906	0.91[ASN][1000 genomes]
rs10963919	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10963920	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963923	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963950	0.83[ASN][1000 genomes]
rs10963953	0.83[ASN][1000 genomes]
rs10963955	0.87[ASN][1000 genomes]
rs10963958	0.87[ASN][1000 genomes]
rs10963962	0.87[ASN][1000 genomes]
rs11788135	0.83[ASN][1000 genomes]
rs12238548	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13284130	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13291632	0.83[ASN][1000 genomes]
rs13298563	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13302453	0.93[ASN][1000 genomes]
rs16937267	0.83[ASN][1000 genomes]
rs1932451	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291502	0.93[ASN][1000 genomes]
rs34507853	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35448309	0.85[ASN][1000 genomes]
rs35804618	0.85[ASN][1000 genomes]
rs36087651	0.87[ASN][1000 genomes]
rs3780221	0.93[ASN][1000 genomes]
rs7026759	0.85[ASN][1000 genomes]
rs7031392	0.97[ASN][1000 genomes]
rs7040525	0.85[ASN][1000 genomes]
rs71508775	0.87[ASN][1000 genomes]
rs71508776	0.87[ASN][1000 genomes]
rs73645573	0.84[ASN][1000 genomes]
rs7852850	0.90[ASN][1000 genomes]
rs7864553	0.80[ASN][1000 genomes]
rs7865126	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv973452	chr9:19033958-19053096	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 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	chr9:19037200-19048400	Weak transcription	Stomach Mucosa	stomach
2	chr9:19043600-19048400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:19046200-19048600	Weak transcription	Right Atrium	heart
4	chr9:19047000-19048600	Weak transcription	Psoas Muscle	Psoas
5	chr9:19047400-19048200	Enhancers	Hela-S3	cervix
6	chr9:19047600-19048000	Enhancers	HepG2	liver
7	chr9:19047600-19048200	Enhancers	K562	blood
8	chr9:19047600-19048600	Enhancers	Fetal Intestine Small	intestine

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