Variant report

Variant	rs1689311
Chromosome Location	chr7:53016534-53016535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1157013	0.87[ASN][1000 genomes]
rs1174854	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539572	0.86[ASN][1000 genomes]
rs1319554	0.87[ASN][1000 genomes]
rs13245173	0.87[ASN][1000 genomes]
rs13438426	0.80[EUR][1000 genomes]
rs13438430	0.80[EUR][1000 genomes]
rs1389273	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1406757	0.87[ASN][1000 genomes]
rs1406758	0.87[ASN][1000 genomes]
rs1689294	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1689295	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1689300	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1689301	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1689310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731300	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1731313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731314	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1731315	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1731321	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2452792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2464093	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7455653	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888027	chr7:52588348-53190508	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017676	chr7:52932139-53350524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831001	chr7:53003534-53152783	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv607008	chr7:53009355-53068819	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv464449	chr7:53009493-53026365	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv607009	chr7:53009493-53026365	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53015800-53017200	Enhancers	Fetal Heart	heart
2	chr7:53015800-53018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:53016000-53017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:53016000-53017000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:53016000-53017000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:53016000-53017000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:53016000-53017200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:53016000-53017400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:53016200-53016800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:53016200-53017200	Enhancers	HUES48 Cell Line	embryonic stem cell

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