Variant report

Variant	rs2748282
Chromosome Location	chr6:91987870-91987871
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12210224	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12213909	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2069205	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2655645	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4376328	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4376329	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4380725	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4513761	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6903471	0.82[ASN][1000 genomes]
rs6915556	0.80[ASN][1000 genomes]
rs9345123	0.80[ASN][1000 genomes]
rs9353815	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9362858	0.89[ASN][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	esv2752130	chr6:91740447-92196479	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1031681	chr6:91784557-92075312	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538359	chr6:91784557-92075312	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1017467	chr6:91802015-92417554	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538360	chr6:91802015-92417554	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	esv2422475	chr6:91818508-91998748	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1030361	chr6:91980874-92116809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv604131	chr6:91985742-92104678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1025794	chr6:91985742-92116809	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020313	chr6:91985742-92130149	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91977800-91988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:91979600-91988400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:91981800-91988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:91984800-91988200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:91986600-91988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:91986600-91988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:91987800-91988200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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