Variant report

Variant	rs1946174
Chromosome Location	chr12:46958228-46958229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46952895..46955574-chr12:46956120..46958944,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10880976	0.82[MEX][hapmap]
rs10880977	0.82[MEX][hapmap]
rs11183519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12300125	0.82[MEX][hapmap]
rs12301825	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes]
rs12311952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12318944	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12579010	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12579419	0.82[AMR][1000 genomes]
rs12579984	0.85[AMR][1000 genomes]
rs12580176	0.84[AMR][1000 genomes]
rs12581743	0.85[AMR][1000 genomes]
rs17097079	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17097091	0.81[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes]
rs1986154	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2160892	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2408616	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2430940	0.82[MEX][hapmap]
rs2471583	0.82[MEX][hapmap]
rs4351902	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4768124	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes]
rs4768126	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768738	0.84[ASN][1000 genomes]
rs4768740	0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs57616927	0.85[AMR][1000 genomes]
rs58806862	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59408501	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132144	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7133051	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7136117	0.80[AMR][1000 genomes]
rs7295471	0.82[MEX][hapmap]
rs7297406	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7310614	0.82[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes]
rs7311414	0.87[AMR][1000 genomes]
rs7315740	0.87[AMR][1000 genomes]
rs73282105	0.87[AMR][1000 genomes]
rs73282110	0.87[AMR][1000 genomes]
rs7487359	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes]
rs7487705	0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs7959179	0.80[ASN][1000 genomes]
rs7976531	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7976785	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46956800-46963400	Weak transcription	Aorta	Aorta
2	chr12:46957000-46962800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:46957000-46963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:46957000-46964800	Weak transcription	NHDF-Ad	bronchial
5	chr12:46957200-46961600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:46957800-46958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:46957800-46962000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:46958200-46958600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46958200-46958600	Active TSS	Fetal Heart	heart
10	chr12:46958200-46959200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:46958200-46962800	Weak transcription	Hela-S3	cervix

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