Variant report

Variant	rs9906250
Chromosome Location	chr17:20744483-20744484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1815568	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1856276	0.81[ASN][1000 genomes]
rs1974279	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1999864	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28538692	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2958466	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2958468	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2958469	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2993351	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2993353	0.81[AMR][1000 genomes]
rs2993360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2993361	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2993369	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34695039	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4359505	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4508469	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4517848	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4520891	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985929	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57273270	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60623070	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6587090	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7207243	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7220472	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7221311	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7222405	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7223908	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73298018	0.83[ASN][1000 genomes]
rs73982310	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8079974	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9891333	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9893692	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9905676	0.84[ASN][1000 genomes]
rs9906238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9906720	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv469647	chr17:20552253-20751738	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv482489	chr17:20552253-20751738	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
7	nsv1066490	chr17:20732646-20786993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1057238	chr17:20734623-20786993	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1057410	chr17:20736492-20782474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1064007	chr17:20736492-20785902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv1065163	chr17:20736890-20778317	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv1067482	chr17:20737431-20782474	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	esv3328922	chr17:20742885-20745733	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20743600-20744800	Active TSS	Primary hematopoietic stem cells	blood
2	chr17:20743800-20744600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr17:20743800-20744600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr17:20743800-20745200	Active TSS	Colon Smooth Muscle	Colon
5	chr17:20744000-20744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr17:20744000-20744600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr17:20744200-20744600	Bivalent Enhancer	Psoas Muscle	Psoas
8	chr17:20744400-20744600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr17:20744400-20744600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:20744400-20744600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:20744400-20744600	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr17:20744400-20744600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
17	chr17:20744400-20744600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr17:20744400-20744800	Enhancers	Primary B cells from peripheral blood	blood
19	chr17:20744400-20744800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
20	chr17:20744400-20744800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:20744400-20744800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:20744400-20744800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr17:20744400-20744800	Bivalent Enhancer	Left Ventricle	heart
26	chr17:20744400-20744800	Bivalent Enhancer	Ovary	ovary
27	chr17:20744400-20744800	Enhancers	Pancreas	Pancrea
28	chr17:20744400-20744800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr17:20744400-20745200	Active TSS	Brain Inferior Temporal Lobe	brain

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