Variant report

Variant	rs1599334
Chromosome Location	chr1:72866574-72866575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10789338	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1084439	0.88[EUR][1000 genomes]
rs1084440	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1084441	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10889955	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11209961	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11209968	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11209969	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11209972	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12026130	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12035763	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12035943	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12759396	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1373913	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1445581	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1445582	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1596762	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1822977	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1822979	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1824530	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1838662	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903372	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121055	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2121056	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2422222	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2568955	0.85[JPT][hapmap]
rs2568958	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2613473	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815767	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290702	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290703	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101336	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3101338	0.85[JPT][hapmap]
rs4649956	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4649957	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4650133	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650138	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4650139	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6424471	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7523080	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7531797	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7534013	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7535539	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs782239	0.88[EUR][1000 genomes]
rs782243	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs782252	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2757734	chr1:72742396-72886813	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2758939	chr1:72742396-72886813	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv830204	chr1:72749851-72938571	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv947113	chr1:72810737-72948614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3414158	chr1:72847980-72873293	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv871873	chr1:72861847-72975877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv870463	chr1:72861847-72995398	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv871758	chr1:72861847-72995398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1599334	RP11-292O17.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72864600-72868400	Weak transcription	HSMM	muscle

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