Variant report

Variant	rs73495869
Chromosome Location	chr13:50832847-50832848
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	chr13:50698110..50701272-chr13:50832584..50834984,3	MCF-7	breast:
2	chr13:50825107..50827543-chr13:50831290..50833489,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57938299	1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59563441	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60147627	1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	1.00[EUR][1000 genomes]
rs61495306	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7324132	1.00[EUR][1000 genomes]
rs7330228	1.00[EUR][1000 genomes]
rs7336462	1.00[EUR][1000 genomes]
rs7337343	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495865	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495873	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495876	1.00[AFR][1000 genomes]
rs73495880	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495885	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495888	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498091	1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[EUR][1000 genomes]
rs73500236	1.00[EUR][1000 genomes]
rs73500241	1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[EUR][1000 genomes]
rs73500290	1.00[EUR][1000 genomes]
rs73500300	1.00[EUR][1000 genomes]
rs73500302	1.00[EUR][1000 genomes]
rs73502108	1.00[EUR][1000 genomes]
rs73502118	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs74079217	1.00[EUR][1000 genomes]
rs74079242	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7996036	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:50828000-50841400	Weak transcription	HepG2	liver
2	chr13:50829200-50833200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr13:50829200-50834200	Enhancers	Dnd41	blood
4	chr13:50830600-50834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:50831600-50833000	Enhancers	Fetal Thymus	thymus
6	chr13:50831600-50833800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:50831800-50833000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:50832200-50834000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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