Variant report

Variant	rs17519453
Chromosome Location	chr9:95188685-95188686
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	MXI1	chr9:95187713-95189231	SK-N-SH	brain:	n/a	n/a
2	EP300	chr9:95187391-95189484	SK-N-SH	brain:	n/a	chr9:95187474-95187488

Variant related genes	Relation type
OMD	TF binding region

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs15717	0.83[EUR][1000 genomes]
rs16908281	0.83[EUR][1000 genomes]
rs17365144	0.81[ASN][1000 genomes]
rs17462606	0.86[ASN][1000 genomes]
rs17519320	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519719	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519922	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17590748	0.83[EUR][1000 genomes]
rs17591007	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17591776	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17591958	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17592026	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17678735	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2236344	0.83[EUR][1000 genomes]
rs2236529	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28365880	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34758505	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34860658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736834	0.83[EUR][1000 genomes]
rs3736836	0.83[EUR][1000 genomes]
rs3758228	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758230	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3758231	0.83[EUR][1000 genomes]
rs3758232	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3780348	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3780349	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41276835	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41277647	1.00[AMR][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41278699	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41305495	0.81[ASN][1000 genomes]
rs41312230	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41312236	0.81[ASN][1000 genomes]
rs4298540	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59627747	0.83[EUR][1000 genomes]
rs61742574	0.83[EUR][1000 genomes]
rs67546506	0.89[EUR][1000 genomes]
rs72750438	1.00[AFR][1000 genomes]
rs72750458	0.83[EUR][1000 genomes]
rs72750463	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750465	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750466	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750468	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750469	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750472	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750477	0.83[EUR][1000 genomes]
rs72750478	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750479	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750482	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750483	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750485	0.83[EUR][1000 genomes]
rs72750487	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750490	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750491	0.93[AMR][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752469	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752502	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754403	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754404	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754408	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754410	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754411	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754415	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754418	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754420	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754421	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754423	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754425	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72754427	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72754434	0.81[ASN][1000 genomes]
rs72754437	0.81[ASN][1000 genomes]
rs72754440	0.81[ASN][1000 genomes]
rs72754442	0.81[ASN][1000 genomes]
rs72754443	0.81[ASN][1000 genomes]
rs72754444	0.81[ASN][1000 genomes]
rs72754445	0.81[ASN][1000 genomes]
rs72754446	0.81[ASN][1000 genomes]
rs72754450	0.81[ASN][1000 genomes]
rs72754452	0.81[ASN][1000 genomes]
rs72754457	0.81[ASN][1000 genomes]
rs72754461	0.81[ASN][1000 genomes]
rs72754463	0.81[ASN][1000 genomes]
rs72754464	0.95[ASN][1000 genomes]
rs72754465	0.81[ASN][1000 genomes]
rs72754470	0.81[ASN][1000 genomes]
rs72754477	0.81[ASN][1000 genomes]
rs72754480	0.95[ASN][1000 genomes]
rs72754482	0.81[ASN][1000 genomes]
rs72754483	0.81[ASN][1000 genomes]
rs72754485	0.95[ASN][1000 genomes]
rs72754487	0.95[ASN][1000 genomes]
rs72754489	0.81[ASN][1000 genomes]
rs72754491	0.81[ASN][1000 genomes]
rs72754496	0.81[ASN][1000 genomes]
rs72754499	0.81[ASN][1000 genomes]
rs72754501	0.81[ASN][1000 genomes]
rs72756423	0.82[ASN][1000 genomes]
rs72756425	0.82[ASN][1000 genomes]
rs72756431	0.82[ASN][1000 genomes]
rs72756437	0.82[ASN][1000 genomes]
rs72756444	0.82[ASN][1000 genomes]
rs921122	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95183800-95189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:95185400-95188800	Weak transcription	Fetal Kidney	kidney
3	chr9:95186200-95202200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:95186600-95189400	Enhancers	Fetal Lung	lung
5	chr9:95186800-95188800	Enhancers	NHLF	lung
6	chr9:95186800-95189000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95187000-95189000	Enhancers	NHDF-Ad	bronchial
8	chr9:95187000-95189400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:95187000-95190600	Enhancers	Fetal Stomach	stomach
10	chr9:95187200-95188800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:95187200-95189000	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:95187400-95189200	Enhancers	Colon Smooth Muscle	Colon
13	chr9:95187400-95189400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:95187400-95192200	Weak transcription	Aorta	Aorta
15	chr9:95188000-95188800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:95188000-95189000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr9:95188000-95189400	Enhancers	Stomach Smooth Muscle	stomach
18	chr9:95188200-95189000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:95188200-95189400	Enhancers	Ovary	ovary
20	chr9:95188400-95189000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:95188400-95189000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:95188400-95189400	Enhancers	Brain Germinal Matrix	brain
23	chr9:95188400-95189600	Enhancers	Fetal Muscle Leg	muscle
24	chr9:95188400-95190800	Enhancers	Fetal Heart	heart
25	chr9:95188600-95189000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:95188600-95189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:95188600-95189600	Enhancers	Fetal Thymus	thymus

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