Variant report

Variant	rs10451559
Chromosome Location	chr2:173378148-173378149
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	SETDB1	chr2:173376226-173378366	K562	blood:	n/a	n/a
2	FOXA1	chr2:173377832-173378231	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:173377684-173378179	HepG2	liver:	n/a	n/a
4	ZNF143	chr2:173377974-173378151	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr2:173377369-173378220	U2OS	brain:	n/a	n/a
6	FOXA2	chr2:173377829-173378230	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000225205	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10178654	0.88[CEU][hapmap]
rs10180021	1.00[CEU][hapmap]
rs10199472	0.88[CEU][hapmap]
rs10201129	0.86[CEU][hapmap]
rs10202550	0.86[CEU][hapmap]
rs10208151	0.88[CEU][hapmap]
rs10210546	0.88[CEU][hapmap]
rs10930557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886058	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11887454	0.88[CEU][hapmap]
rs11890159	0.88[CEU][hapmap]
rs11892462	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895820	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693005	0.86[CEU][hapmap]
rs13007707	1.00[CEU][hapmap]
rs13012115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027362	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027432	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033614	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13385403	0.86[CEU][hapmap]
rs13392808	0.88[CEU][hapmap]
rs13394924	0.86[CEU][hapmap]
rs13398305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412041	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417334	0.86[CEU][hapmap]
rs16860696	0.88[CEU][hapmap]
rs16860697	0.88[CEU][hapmap]
rs17299956	0.88[CEU][hapmap]
rs17702263	0.86[CEU][hapmap]
rs17740327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869922	0.86[CEU][hapmap]
rs2701269	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701270	1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463972	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480655	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884226	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277286	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401899	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532264	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34926868	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938988	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970908	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981026	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347526	0.99[EUR][1000 genomes]
rs59424951	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61486827	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167823	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167824	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433365	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723872	0.86[CEU][hapmap]
rs6739419	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746243	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752257	0.86[CEU][hapmap]
rs7580589	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173372600-173379600	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:173375000-173380800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:173375400-173378400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr2:173375400-173378800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr2:173375400-173379200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:173375600-173378400	ZNF genes & repeats	Liver	Liver
8	chr2:173376000-173378400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:173376000-173378800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr2:173376000-173379000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr2:173376200-173378600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:173376400-173378400	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr2:173376400-173397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173377200-173386000	Weak transcription	Primary T cells from cord blood	blood
15	chr2:173377400-173380800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:173378000-173378200	Enhancers	Monocytes-CD14+_RO01746	blood

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