Variant report

Variant	rs11997369
Chromosome Location	chr8:61393060-61393061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61392454..61394933-chr8:61396729..61399612,2	K562	blood:

Variant related genes	Relation type
ENSG00000252753	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10504313	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11984591	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11984682	0.85[ASN][1000 genomes]
rs11985737	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs11987024	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11988169	0.85[ASN][1000 genomes]
rs11988323	0.85[ASN][1000 genomes]
rs11988389	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11991778	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs11996337	0.85[ASN][1000 genomes]
rs16926067	1.00[MEX][hapmap]
rs16926128	0.92[ASN][1000 genomes]
rs16926130	0.92[ASN][1000 genomes]
rs16926228	1.00[ASN][1000 genomes]
rs16926248	0.85[ASN][1000 genomes]
rs16926256	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16926277	0.85[ASN][1000 genomes]
rs16926304	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs16926305	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs16926308	0.85[ASN][1000 genomes]
rs16926311	0.85[ASN][1000 genomes]
rs16926338	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1893277	0.95[LWK][hapmap];0.92[YRI][hapmap]
rs2326572	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2930038	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2930041	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs2946149	0.85[ASN][1000 genomes]
rs2946150	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2981283	0.85[ASN][1000 genomes]
rs60504642	0.85[ASN][1000 genomes]
rs61174790	0.85[ASN][1000 genomes]
rs61291329	0.85[ASN][1000 genomes]
rs6471887	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs6986664	0.92[YRI][hapmap]
rs6987831	0.85[ASN][1000 genomes]
rs7000882	0.85[ASN][1000 genomes]
rs7001063	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7005259	0.85[ASN][1000 genomes]
rs7016173	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs73243810	0.85[ASN][1000 genomes]
rs73257409	0.85[ASN][1000 genomes]
rs73257414	0.85[ASN][1000 genomes]
rs73257427	0.85[ASN][1000 genomes]
rs73257433	0.85[ASN][1000 genomes]
rs73257434	0.85[ASN][1000 genomes]
rs73257435	0.85[ASN][1000 genomes]
rs73257440	0.85[ASN][1000 genomes]
rs73257481	0.85[ASN][1000 genomes]
rs73257484	0.85[ASN][1000 genomes]
rs73257486	0.85[ASN][1000 genomes]
rs73257487	0.85[ASN][1000 genomes]
rs73257499	0.85[ASN][1000 genomes]
rs73259425	0.85[ASN][1000 genomes]
rs73259430	0.85[ASN][1000 genomes]
rs73259438	0.85[ASN][1000 genomes]
rs73259453	0.85[ASN][1000 genomes]
rs73259488	0.85[ASN][1000 genomes]
rs73259499	0.85[ASN][1000 genomes]
rs73261204	0.85[ASN][1000 genomes]
rs73261219	0.85[ASN][1000 genomes]
rs73261234	0.85[ASN][1000 genomes]
rs73261269	0.85[ASN][1000 genomes]
rs7341555	0.85[ASN][1000 genomes]
rs7341633	0.85[ASN][1000 genomes]
rs7815886	1.00[CHB][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7816273	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7825285	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7827528	0.85[ASN][1000 genomes]
rs7834982	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs7839008	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs922607	1.00[MEX][hapmap]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11997369	FHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61390600-61394400	Enhancers	Placenta	Placenta
2	chr8:61391000-61394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61391200-61396000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:61392200-61393200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:61392600-61393800	Enhancers	Hela-S3	cervix
6	chr8:61392600-61393800	Enhancers	NHEK	skin
7	chr8:61392800-61393200	Enhancers	A549	lung
8	chr8:61392800-61393600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:61392800-61393800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:61392800-61393800	Enhancers	HMEC	breast
11	chr8:61393000-61393400	Enhancers	Osteobl	bone
12	chr8:61393000-61393600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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