Variant report

Variant	rs57608770
Chromosome Location	chr9:118281846-118281847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10732379	0.83[ASN][1000 genomes]
rs12115665	0.85[AMR][1000 genomes]
rs1989770	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2188047	0.86[ASN][1000 genomes]
rs2213920	0.83[ASN][1000 genomes]
rs2418358	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4424342	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637918	0.91[ASN][1000 genomes]
rs4978638	0.83[ASN][1000 genomes]
rs4979539	0.81[ASN][1000 genomes]
rs6415820	0.83[ASN][1000 genomes]
rs6478168	0.83[ASN][1000 genomes]
rs6478170	0.86[ASN][1000 genomes]
rs73511206	0.85[AMR][1000 genomes]
rs739342	0.85[AMR][1000 genomes]
rs7467290	0.85[AMR][1000 genomes]
rs7467654	0.86[ASN][1000 genomes]
rs7852977	0.83[ASN][1000 genomes]
rs7860135	0.83[ASN][1000 genomes]
rs7863450	0.83[ASN][1000 genomes]
rs9299227	0.96[ASN][1000 genomes]
rs9408871	0.96[ASN][1000 genomes]
rs9409160	0.83[ASN][1000 genomes]
rs9409169	0.95[ASN][1000 genomes]
rs980176	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1042957	chr9:118153824-118313540	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv893770	chr9:118213502-118299750	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv893771	chr9:118244107-118332688	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv615252	chr9:118253001-118314667	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1043001	chr9:118253881-118333900	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57608770	IQGAP1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118276600-118286600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:118277000-118292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:118277200-118282400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:118277200-118283800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:118277200-118283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:118277200-118286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:118277200-118286600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:118278200-118285400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:118279600-118286600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:118279600-118286600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:118280200-118282200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:118280800-118282800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:118280800-118286600	Weak transcription	Fetal Stomach	stomach
14	chr9:118281000-118282000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:118281000-118286400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:118281000-118286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:118281000-118286400	Weak transcription	Osteobl	bone
18	chr9:118281200-118286000	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr9:118281400-118282200	Enhancers	Fetal Lung	lung
20	chr9:118281600-118286600	Weak transcription	NHDF-Ad	bronchial
21	chr9:118281800-118284000	Enhancers	Colon Smooth Muscle	Colon

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