Variant report

Variant	rs10993095
Chromosome Location	chr9:96970220-96970221
allele	C/T
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	POLR2A	chr9:96970035-96970340	H1-neurons	neurons:	n/a	n/a
2	TRIM28	chr9:96970065-96970399	K562	blood:	n/a	n/a
3	CBX3	chr9:96970046-96970471	K562	blood:	n/a	n/a
4	KAP1	chr9:96970038-96970739	K562	blood:	n/a	n/a
5	TRIM28	chr9:96970044-96970508	K562	blood:	n/a	n/a
6	ZNF384	chr9:96970109-96970507	K562	blood:	n/a	n/a
7	POLR2A	chr9:96970035-96970399	H1-neurons	neurons:	n/a	n/a
8	TEAD4	chr9:96970123-96970356	K562	blood:	n/a	n/a
9	SETDB1	chr9:96970162-96970503	U2OS	brain:	n/a	n/a
10	ZNF143	chr9:96970130-96970406	K562	blood:	n/a	n/a
11	CBX3	chr9:96970118-96970424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96791501..96793535-chr9:96970012..96971868,2	MCF-7	breast:
2	chr9:96927341..96929723-chr9:96969750..96973074,4	K562	blood:

Variant related genes	Relation type
MIRLET7DHG	TF binding region
ENSG00000158079	Chromatin interaction
ENSG00000269946	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10512230	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10739971	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10761320	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10761323	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10761324	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10821305	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10821306	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10821310	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10821311	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10821316	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10821317	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10993072	0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993073	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993074	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993075	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10993096	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10993097	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10993100	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11790972	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12004367	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12551019	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13293512	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2039012	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34181781	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36030019	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7025395	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7030004	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7865876	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9409498	0.84[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs9409706	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9409709	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs9409710	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	195 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10993095	HIATL1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96961200-96973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:96963200-96971200	Weak transcription	Aorta	Aorta

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