Variant report

Variant	rs12612772
Chromosome Location	chr2:47482167-47482168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47401569..47403702-chr2:47481617..47483569,3	K562	blood:
2	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
3	chr2:47475912..47477732-chr2:47481977..47484022,2	K562	blood:
4	chr2:47400516..47406880-chr2:47471949..47486822,24	K562	blood:
5	chr2:47477685..47479668-chr2:47480909..47483654,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10172988	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10174718	0.84[EUR][1000 genomes]
rs10185578	0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs10186190	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10190105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209219	0.84[EUR][1000 genomes]
rs10209637	0.82[CHB][hapmap]
rs10209762	0.96[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10210258	0.82[ASN][1000 genomes]
rs11125127	0.84[ASN][1000 genomes]
rs11125128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11885910	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11894768	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11896275	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11900317	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12618281	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1553061	0.82[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036412	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036164	0.89[ASN][1000 genomes]
rs2055225	0.86[CHB][hapmap]
rs6727256	0.87[ASN][1000 genomes]
rs6738753	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6755555	0.82[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72806423	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595170	0.86[EUR][1000 genomes]
rs7595256	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3393036	chr2:47482098-47484471	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 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	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:47476800-47483600	Weak transcription	A549	lung
3	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:47478000-47483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:47478200-47483600	Weak transcription	NH-A	brain
9	chr2:47478600-47483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:47478800-47487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
12	chr2:47479600-47482400	Enhancers	Fetal Intestine Small	intestine
13	chr2:47480000-47486600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:47481200-47482200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:47481200-47482200	Enhancers	GM12878-XiMat	blood
16	chr2:47481400-47484000	Weak transcription	Fetal Intestine Large	intestine

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