Variant report

Variant	rs253723
Chromosome Location	chr5:151475994-151475995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10075826	0.91[ASN][1000 genomes]
rs10515655	0.91[ASN][1000 genomes]
rs10515656	0.93[ASN][1000 genomes]
rs11959433	0.88[ASN][1000 genomes]
rs12652437	0.83[ASN][1000 genomes]
rs13353990	0.83[ASN][1000 genomes]
rs149570	0.81[ASN][1000 genomes]
rs150508	0.81[ASN][1000 genomes]
rs1508767	0.81[ASN][1000 genomes]
rs154108	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs154694	0.91[ASN][1000 genomes]
rs159495	0.81[ASN][1000 genomes]
rs159802	0.81[ASN][1000 genomes]
rs159819	0.81[ASN][1000 genomes]
rs159821	0.81[ASN][1000 genomes]
rs159822	0.80[ASN][1000 genomes]
rs160036	0.91[ASN][1000 genomes]
rs160037	0.91[ASN][1000 genomes]
rs160040	0.81[ASN][1000 genomes]
rs160041	0.81[ASN][1000 genomes]
rs1650908	0.81[ASN][1000 genomes]
rs1650909	0.81[ASN][1000 genomes]
rs166197	0.93[ASN][1000 genomes]
rs1662206	0.81[ASN][1000 genomes]
rs1662207	0.81[ASN][1000 genomes]
rs1662208	0.81[ASN][1000 genomes]
rs167221	0.81[ASN][1000 genomes]
rs17112702	1.00[ASN][1000 genomes]
rs17662569	0.87[ASN][1000 genomes]
rs17742249	0.91[ASN][1000 genomes]
rs17742283	0.92[ASN][1000 genomes]
rs17742331	0.92[ASN][1000 genomes]
rs17742343	0.93[ASN][1000 genomes]
rs17742422	0.83[ASN][1000 genomes]
rs17742440	0.93[ASN][1000 genomes]
rs177439	0.92[ASN][1000 genomes]
rs17804556	0.93[ASN][1000 genomes]
rs185252	0.92[ASN][1000 genomes]
rs1896779	0.88[ASN][1000 genomes]
rs253726	0.92[ASN][1000 genomes]
rs2562388	0.81[ASN][1000 genomes]
rs2584912	0.81[ASN][1000 genomes]
rs2599478	0.81[ASN][1000 genomes]
rs28378200	0.83[ASN][1000 genomes]
rs297453	0.81[ASN][1000 genomes]
rs297454	0.81[ASN][1000 genomes]
rs29849	0.92[ASN][1000 genomes]
rs29851	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs29855	0.93[ASN][1000 genomes]
rs29856	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300669	0.81[ASN][1000 genomes]
rs300670	0.81[ASN][1000 genomes]
rs303989	0.81[ASN][1000 genomes]
rs303990	0.81[ASN][1000 genomes]
rs303991	0.81[ASN][1000 genomes]
rs3852201	0.93[ASN][1000 genomes]
rs3909851	0.93[ASN][1000 genomes]
rs3909854	0.93[ASN][1000 genomes]
rs3909856	0.87[ASN][1000 genomes]
rs39806	0.93[ASN][1000 genomes]
rs440768	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471407	0.81[ASN][1000 genomes]
rs475253	0.81[ASN][1000 genomes]
rs482564	0.81[ASN][1000 genomes]
rs485313	0.81[ASN][1000 genomes]
rs487470	0.81[ASN][1000 genomes]
rs488335	0.81[ASN][1000 genomes]
rs489145	0.81[ASN][1000 genomes]
rs494362	0.81[ASN][1000 genomes]
rs4958292	0.81[ASN][1000 genomes]
rs4958513	0.86[ASN][1000 genomes]
rs499767	0.81[ASN][1000 genomes]
rs511292	0.81[ASN][1000 genomes]
rs514032	0.81[ASN][1000 genomes]
rs515833	0.81[ASN][1000 genomes]
rs516675	0.81[ASN][1000 genomes]
rs523609	0.81[ASN][1000 genomes]
rs524587	0.81[ASN][1000 genomes]
rs524656	0.90[ASN][1000 genomes]
rs526435	0.81[ASN][1000 genomes]
rs527312	0.81[ASN][1000 genomes]
rs529108	0.81[ASN][1000 genomes]
rs532857	0.81[ASN][1000 genomes]
rs534607	0.81[ASN][1000 genomes]
rs553933	0.81[ASN][1000 genomes]
rs556591	0.84[ASN][1000 genomes]
rs557546	0.81[ASN][1000 genomes]
rs577045	0.81[ASN][1000 genomes]
rs58240603	0.93[ASN][1000 genomes]
rs695205	0.81[ASN][1000 genomes]
rs72492470	0.81[ASN][1000 genomes]
rs72802282	0.91[ASN][1000 genomes]
rs72802285	0.93[ASN][1000 genomes]
rs72802288	0.93[ASN][1000 genomes]
rs73274922	0.83[ASN][1000 genomes]
rs804966	0.82[ASN][1000 genomes]
rs891164	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020899	chr5:151412785-151516788	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv508384	chr5:151438582-151487326	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv2760935	chr5:151463117-151586051	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv883039	chr5:151471642-151540888	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv883040	chr5:151471642-151596273	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:151472200-151476000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:151475200-151476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:151475600-151477000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:151475600-151477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:151475600-151477800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:151475800-151476200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:151475800-151476600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:151475800-151477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:151475800-151477200	Enhancers	HUES48 Cell Line	embryonic stem cell

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