Variant report

Variant	rs73293121
Chromosome Location	chr10:49513127-49513128
allele	G/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	GATA3	chr10:49512949-49513311	T-47D	breast:	n/a	n/a
2	GATA3	chr10:49513023-49513371	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49508706..49510479-chr10:49512304..49514227,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	1.00[EUR][1000 genomes]
rs2590379	1.00[EUR][1000 genomes]
rs2590380	1.00[EUR][1000 genomes]
rs2698765	1.00[EUR][1000 genomes]
rs3730154	1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	1.00[EUR][1000 genomes]
rs59377405	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7072065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293181	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7901179	1.00[EUR][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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49496400-49514200	Weak transcription	Right Atrium	heart
2	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49508800-49514000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:49508800-49514000	Weak transcription	Dnd41	blood
6	chr10:49509200-49513800	Weak transcription	Brain Angular Gyrus	brain
7	chr10:49509200-49514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:49509200-49514000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:49509200-49514000	Weak transcription	Brain Anterior Caudate	brain
10	chr10:49509200-49514000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:49511400-49514000	Weak transcription	K562	blood
12	chr10:49511400-49514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:49512000-49514000	Weak transcription	GM12878-XiMat	blood
14	chr10:49512400-49514000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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