Variant report

Variant	rs17707626
Chromosome Location	chr2:184092481-184092482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184092172..184094879-chr2:184097017..184099581,2	K562	blood:
2	chr2:184090996..184094038-chr2:184094574..184096759,3	K562	blood:
3	chr2:184091272..184093435-chr2:184098756..184100523,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17707306	1.00[AFR][1000 genomes]
rs17707407	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17707482	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17707596	1.00[AFR][1000 genomes]
rs17707992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17708224	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758051	0.98[AFR][1000 genomes]
rs17758247	1.00[AFR][1000 genomes]
rs17758271	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758295	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17758404	1.00[AFR][1000 genomes]
rs17758560	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17758692	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17758722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17758734	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17758764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17758808	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2045762	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2045763	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56724347	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57461422	0.81[AFR][1000 genomes]
rs58870754	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59938270	0.94[AFR][1000 genomes]
rs61058678	1.00[AFR][1000 genomes]
rs62188082	1.00[AFR][1000 genomes]
rs62188083	1.00[AFR][1000 genomes]
rs7601755	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7603511	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv508187	chr2:184080265-184100539	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv2763254	chr2:184084153-184097520	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv999917	chr2:184084153-184102657	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv1011473	chr2:184084153-184104561	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1007287	chr2:184084153-184106849	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv1014008	chr2:184085441-184111385	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv517040	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv583932	chr2:184085788-184095979	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv215031	chr2:184085889-184093428	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184072600-184094000	Weak transcription	HSMM	muscle
2	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
4	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:184089600-184093000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:184090200-184094000	Weak transcription	Osteobl	bone
7	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:184090400-184094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:184091600-184092800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:184091600-184093000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:184091600-184093000	Enhancers	Psoas Muscle	Psoas
12	chr2:184092200-184096800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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