Variant report

Variant	rs2297422
Chromosome Location	chr6:38951775-38951776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10947769	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10947772	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10947773	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10947774	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12192920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12199125	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12204558	0.81[ASN][1000 genomes]
rs12210777	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12212950	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12213273	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332013	1.00[ASN][1000 genomes]
rs2395711	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56800988	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59339583	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60831909	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6458091	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6458092	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7738586	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7760279	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	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr6:38945200-38958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:38945400-38958000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:38946200-38952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:38950600-38956600	Weak transcription	Pancreas	Pancrea
5	chr6:38950800-38952400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:38950800-38952400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:38950800-38952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:38950800-38952600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:38951000-38952600	Weak transcription	iPS-18 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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