Variant report

Variant	rs17344266
Chromosome Location	chr2:212973490-212973491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10204324	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10932423	0.80[JPT][hapmap]
rs11677987	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11680307	0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11684050	0.94[JPT][hapmap]
rs11689043	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11689133	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11690618	0.81[CEU][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs11695227	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11887531	0.88[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11902372	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12151841	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465933	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12468336	0.81[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12469791	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12473715	0.87[JPT][hapmap]
rs13384295	0.81[ASN][1000 genomes]
rs1521655	0.88[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1521656	0.87[JPT][hapmap]
rs1521658	0.80[JPT][hapmap]
rs17344385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17416172	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17416263	0.80[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs17416297	0.88[JPT][hapmap]
rs2371442	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371475	0.92[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2371476	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2888042	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2888051	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs4571009	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56242159	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56351822	0.84[ASN][1000 genomes]
rs62183999	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62184037	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62184038	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62184039	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6435689	0.90[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6435690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6435691	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6715314	0.87[JPT][hapmap]
rs6719517	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6738304	0.92[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7426206	0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7562352	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7576561	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7577530	0.87[JPT][hapmap]
rs7579502	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7579631	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7583813	0.87[JPT][hapmap]
rs954553	0.93[JPT][hapmap]

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	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212971800-212973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:212971800-212973600	Weak transcription	Aorta	Aorta
3	chr2:212972200-212973600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:212972200-212975400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:212972400-212973800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:212972600-212976000	Enhancers	HUVEC	blood vessel
7	chr2:212972800-212975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:212973000-212976200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:212973400-212974200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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