Variant report

Variant	rs17758560
Chromosome Location	chr2:184095113-184095114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184095112..184100079-chr2:184103320..184106958,5	K562	blood:
2	chr2:184095112..184100375-chr2:184102861..184106958,5	K562	blood:
3	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
4	chr2:184080700..184082212-chr2:184094955..184097317,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17707306	0.80[AFR][1000 genomes]
rs17707407	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17707482	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17707596	0.80[AFR][1000 genomes]
rs17707626	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17707992	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17708224	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17758247	0.80[AFR][1000 genomes]
rs17758271	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17758295	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17758404	0.80[AFR][1000 genomes]
rs17758692	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17758722	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17758734	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17758764	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17758808	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2045762	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2045763	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2705725	1.00[MEX][hapmap]
rs2705726	1.00[MEX][hapmap]
rs2887233	1.00[MEX][hapmap]
rs56724347	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58870754	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61058678	0.80[AFR][1000 genomes]
rs62188082	0.80[AFR][1000 genomes]
rs62188083	0.80[AFR][1000 genomes]
rs7601755	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	35 gene(s)	inside rSNPs	diseases
2	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv508187	chr2:184080265-184100539	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv2763254	chr2:184084153-184097520	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv999917	chr2:184084153-184102657	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1011473	chr2:184084153-184104561	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1007287	chr2:184084153-184106849	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1014008	chr2:184085441-184111385	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv517040	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv583932	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:184092200-184096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:184093000-184095200	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:184094000-184096600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:184094600-184095200	Weak transcription	HSMMtube	muscle

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