Variant report

Variant	rs1869253
Chromosome Location	chr12:44964390-44964391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1037435	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1037436	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs10785501	0.89[JPT][hapmap]
rs10785503	0.99[ASN][1000 genomes]
rs10785505	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785506	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs10785507	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs10785509	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785510	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10785511	0.83[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10880652	0.96[ASN][1000 genomes]
rs10880653	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10880654	0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1349621	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1376997	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs1377280	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs1452256	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs1452257	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs1493748	0.94[JPT][hapmap]
rs1552860	0.95[JPT][hapmap]
rs1901556	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs1908179	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs2060840	0.89[CHB][hapmap]
rs4143007	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs4768555	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4768556	0.94[JPT][hapmap]
rs61930801	0.99[ASN][1000 genomes]
rs61930833	0.99[ASN][1000 genomes]
rs728065	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs7486016	0.99[ASN][1000 genomes]
rs7953156	0.95[JPT][hapmap]
rs7966066	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs7979765	0.96[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:44946400-44976400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:44954400-44970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:44960200-44964800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:44963800-44965600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:44964000-44965400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:44964000-44965600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:44964000-44965600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:44964000-44965800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:44964200-44965600	Enhancers	HUES64 Cell Line	embryonic stem cell

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