Variant report

Variant	rs6546745
Chromosome Location	chr2:72379723-72379724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72372897..72375533-chr2:72379087..72381066,2	K562	blood:
2	chr2:72377204..72379877-chr2:72380463..72383459,3	MCF-7	breast:
3	chr2:72371800..72374684-chr2:72379552..72382497,3	MCF-7	breast:
4	chr2:72378701..72381631-chr2:72382002..72385410,3	K562	blood:

Variant related genes	Relation type
ENSG00000003137	Chromatin interaction

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

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

rs_ID	r²[population]
rs1002415	0.88[CEU][hapmap]
rs10166057	0.89[ASN][1000 genomes]
rs10202129	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10490039	0.88[CEU][hapmap]
rs10490040	0.88[CEU][hapmap]
rs13339845	0.88[CEU][hapmap]
rs13407599	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17007927	0.88[CEU][hapmap]
rs17007929	0.88[CEU][hapmap]
rs17007933	0.88[CEU][hapmap]
rs17007934	0.88[CEU][hapmap]
rs17007937	0.88[CEU][hapmap]
rs2192012	0.88[CEU][hapmap]
rs2901091	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768638	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768639	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3768641	1.00[JPT][hapmap]
rs62150093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150094	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62150096	0.92[EUR][1000 genomes]
rs6546746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546748	0.96[ASN][1000 genomes]
rs6705261	0.88[CEU][hapmap]
rs6705347	0.88[CEU][hapmap]
rs6710195	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710373	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738598	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738942	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748698	0.88[CEU][hapmap]
rs7557210	0.89[ASN][1000 genomes]
rs7596302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309462	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[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	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72377600-72381400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:72378000-72380400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:72378000-72382600	Weak transcription	Fetal Heart	heart
4	chr2:72379000-72380600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:72379200-72380400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:72379400-72380200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:72379400-72380200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr2:72379400-72380600	Enhancers	Placenta	Placenta

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