Variant report

Variant	rs56331609
Chromosome Location	chr16:70484371-70484372
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:20)

rs_ID	r²[population]
rs11860625	1.00[AMR][1000 genomes]
rs17879102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879684	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57326693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57525508	0.85[AMR][1000 genomes]
rs58592676	1.00[AMR][1000 genomes]
rs60939494	0.85[AMR][1000 genomes]
rs61610761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024201	0.83[AMR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026025	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049316	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
2	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:70478400-70484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:70478400-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:70478800-70487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:70479400-70487400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:70481200-70487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:70481200-70487400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:70481200-70487400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:70481400-70485200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70481400-70487200	Weak transcription	K562	blood
12	chr16:70481400-70487400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:70481400-70487400	Weak transcription	Primary B cells from cord blood	blood
14	chr16:70482000-70487400	Weak transcription	GM12878-XiMat	blood
15	chr16:70483000-70484400	Enhancers	HepG2	liver
16	chr16:70484000-70484400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:70484200-70487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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