Variant report

Variant	rs3987765
Chromosome Location	chr19:51713743-51713744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr19:51713721-51714600	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SIGLEC22P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10423169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12971624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972523	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12980247	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566577	1.00[CEU][hapmap]
rs1568004	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2134073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2173879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806626	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34990128	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826666	1.00[CHB][hapmap]
rs3896361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4082664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71358817	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252160	1.00[CHB][hapmap]
rs7252722	1.00[CHB][hapmap]
rs7252750	1.00[CHB][hapmap]
rs7257445	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612233	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612235	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73613991	1.00[ASN][1000 genomes]
rs8106173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51704800-51715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51711400-51714000	Weak transcription	GM12878-XiMat	blood
3	chr19:51713200-51714000	Enhancers	Fetal Brain Male	brain
4	chr19:51713200-51714200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51713400-51714000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:51713400-51714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:51713400-51715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:51713400-51715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:51713600-51714200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:51713600-51715600	Enhancers	Primary hematopoietic stem cells	blood

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