Variant report

Variant	rs74109591
Chromosome Location	chr12:75985696-75985697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75984062..75986222-chr12:75992566..75995457,2	K562	blood:
2	chr12:75977035..75979690-chr12:75984009..75986249,2	MCF-7	breast:
3	chr12:75973476..75975106-chr12:75984074..75986989,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257777	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11366	1.00[AMR][1000 genomes]
rs55838537	1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs55938346	1.00[AMR][1000 genomes]
rs56198554	1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs61087380	1.00[AMR][1000 genomes]
rs7313298	1.00[AMR][1000 genomes]
rs74108760	1.00[AMR][1000 genomes]
rs74108761	1.00[AMR][1000 genomes]
rs74108762	1.00[AMR][1000 genomes]
rs74108767	1.00[AMR][1000 genomes]
rs74108768	1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	1.00[AMR][1000 genomes]
rs74108779	1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	1.00[AMR][1000 genomes]
rs74108791	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108812	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AMR][1000 genomes]
rs74108833	1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[AMR][1000 genomes]
rs74108840	1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74109586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109593	1.00[AMR][1000 genomes]
rs74109746	1.00[AMR][1000 genomes]
rs74109747	1.00[AMR][1000 genomes]
rs74109748	1.00[AMR][1000 genomes]
rs74109749	1.00[AMR][1000 genomes]
rs74109754	1.00[AMR][1000 genomes]
rs74109755	1.00[AMR][1000 genomes]
rs74109756	1.00[AMR][1000 genomes]
rs74109757	1.00[AMR][1000 genomes]
rs74109762	1.00[AMR][1000 genomes]
rs74109764	1.00[AMR][1000 genomes]
rs74109768	1.00[AMR][1000 genomes]
rs74109770	1.00[AMR][1000 genomes]
rs74109771	1.00[AMR][1000 genomes]
rs74109772	1.00[AMR][1000 genomes]
rs74109773	1.00[AMR][1000 genomes]
rs74109774	1.00[AMR][1000 genomes]
rs74109776	1.00[AMR][1000 genomes]
rs74109780	1.00[AMR][1000 genomes]
rs74109781	1.00[AMR][1000 genomes]
rs74109782	1.00[AMR][1000 genomes]
rs74109785	1.00[AMR][1000 genomes]
rs74109786	1.00[AMR][1000 genomes]
rs74109787	1.00[AMR][1000 genomes]
rs74109789	1.00[AMR][1000 genomes]
rs74109790	1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112439	1.00[AMR][1000 genomes]
rs74112440	1.00[AMR][1000 genomes]
rs74112441	1.00[AMR][1000 genomes]
rs74112442	1.00[AMR][1000 genomes]
rs74112443	1.00[AMR][1000 genomes]
rs74112444	1.00[AMR][1000 genomes]
rs74112446	1.00[AMR][1000 genomes]
rs7954292	1.00[AMR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr12:75978400-75986800	Enhancers	NHDF-Ad	bronchial
2	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:75983200-75986400	Enhancers	Fetal Lung	lung
4	chr12:75984200-75986400	Enhancers	Fetal Brain Male	brain
5	chr12:75985200-75985800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:75985400-75985800	Enhancers	HSMMtube	muscle
7	chr12:75985600-75985800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:75985600-75986600	Weak transcription	Fetal Brain Female	brain

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