Variant report

Variant	rs824715
Chromosome Location	chr12:42471547-42471548
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr12:42470224-42471561	PBDE	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641

Variant related genes	Relation type
ENSG00000222884	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs1157577	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11836064	1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs1688876	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs1920698	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73274301	1.00[EUR][1000 genomes]
rs73276306	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	1.00[EUR][1000 genomes]
rs73276381	1.00[EUR][1000 genomes]
rs73276390	1.00[EUR][1000 genomes]
rs73276399	1.00[EUR][1000 genomes]
rs73278206	1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]
rs850965	1.00[EUR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
4	chr12:42469400-42491800	Weak transcription	Ovary	ovary
5	chr12:42470400-42479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:42470600-42475000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:42470600-42476000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:42470800-42480000	Weak transcription	A549	lung
12	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
13	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42471200-42472000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:42471200-42479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle

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