Variant report

Variant	rs73181919
Chromosome Location	chr12:104755922-104755923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104749005..104751520-chr12:104753750..104756278,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10735392	0.86[EUR][1000 genomes]
rs10735393	0.82[EUR][1000 genomes]
rs10735395	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10861204	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11111919	1.00[AFR][1000 genomes]
rs11111943	1.00[AFR][1000 genomes]
rs12426783	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17202862	1.00[AFR][1000 genomes]
rs3935020	1.00[AFR][1000 genomes]
rs3935021	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4246264	1.00[AFR][1000 genomes]
rs4246269	0.91[EUR][1000 genomes]
rs4246270	0.91[EUR][1000 genomes]
rs4246271	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4447242	0.91[EUR][1000 genomes]
rs4502051	0.91[EUR][1000 genomes]
rs4545635	1.00[AFR][1000 genomes]
rs4630362	1.00[AFR][1000 genomes]
rs4964227	1.00[AFR][1000 genomes]
rs4964228	1.00[AFR][1000 genomes]
rs4964257	1.00[AFR][1000 genomes]
rs4964260	1.00[AFR][1000 genomes]
rs4964288	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4964732	1.00[AFR][1000 genomes]
rs4964752	0.84[EUR][1000 genomes]
rs4964761	0.84[EUR][1000 genomes]
rs4964779	0.91[EUR][1000 genomes]
rs4964784	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58129714	0.80[ASN][1000 genomes]
rs6539131	1.00[AFR][1000 genomes]
rs6539137	1.00[AFR][1000 genomes]
rs7138317	1.00[AFR][1000 genomes]
rs7139336	0.84[EUR][1000 genomes]
rs7294997	0.84[EUR][1000 genomes]
rs7298613	0.91[EUR][1000 genomes]
rs7299669	1.00[AFR][1000 genomes]
rs73177990	1.00[AFR][1000 genomes]
rs73181916	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73181926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73181944	1.00[AFR][1000 genomes]
rs7962423	0.91[EUR][1000 genomes]
rs7969351	0.84[EUR][1000 genomes]
rs7969604	1.00[AFR][1000 genomes]
rs9738614	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9739826	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9739833	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104721800-104760000	Weak transcription	Stomach Mucosa	stomach
2	chr12:104745000-104761400	Weak transcription	Psoas Muscle	Psoas
3	chr12:104746000-104756800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:104746200-104761200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:104746200-104763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:104747800-104756000	Weak transcription	Aorta	Aorta
7	chr12:104748400-104761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:104749000-104758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:104749000-104762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:104749000-104763200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:104749000-104765800	Weak transcription	Thymus	Thymus
12	chr12:104749200-104763000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:104749200-104763400	Weak transcription	HUVEC	blood vessel
14	chr12:104749800-104769400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:104750400-104764800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:104751400-104761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104753800-104765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:104754400-104761400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:104754400-104764800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:104754600-104761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:104755000-104758400	Weak transcription	A549	lung
22	chr12:104755000-104760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104755400-104756000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104755400-104759200	Weak transcription	Placenta	Placenta

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