Variant report

Variant	rs6691943
Chromosome Location	chr1:119913684-119913685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119913437..119915978-chr1:119926365..119928542,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10923815	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10923817	0.89[EUR][1000 genomes]
rs10923820	0.90[EUR][1000 genomes]
rs12023716	0.90[EUR][1000 genomes]
rs12032036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12035458	0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs12044792	0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs12402935	0.86[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs12403000	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12403392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12404131	0.90[EUR][1000 genomes]
rs12411080	0.80[CHB][hapmap];0.88[JPT][hapmap];0.97[EUR][1000 genomes]
rs1341012	0.90[EUR][1000 genomes]
rs1341016	0.90[EUR][1000 genomes]
rs17023517	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17023641	0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs2050894	0.90[EUR][1000 genomes]
rs3765952	0.87[CHB][hapmap]
rs3765956	0.87[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs3765957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795660	0.86[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs41443445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4659003	0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs58322461	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58496137	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58498757	0.90[EUR][1000 genomes]
rs58657268	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60105397	0.80[AFR][1000 genomes]
rs61331918	0.90[EUR][1000 genomes]
rs6663287	0.92[YRI][hapmap]
rs6676988	0.97[EUR][1000 genomes]
rs6694847	0.87[ASW][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6704362	0.92[YRI][hapmap]
rs72991418	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556598	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised 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	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv2761649	chr1:119840645-119925936	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6691943	FGF9	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119906400-119914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:119908200-119915400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:119910800-119915000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:119911800-119914200	Weak transcription	HepG2	liver
5	chr1:119911800-119915200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:119912200-119914200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:119912600-119914600	Flanking Active TSS	Liver	Liver
8	chr1:119912800-119916800	Weak transcription	Fetal Kidney	kidney
9	chr1:119913600-119916000	Enhancers	Fetal Lung	lung

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