Variant report

Variant	rs2740516
Chromosome Location	chr13:50761619-50761620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50761279..50763703-chr13:50765539..50767086,2	MCF-7	breast:
2	chr13:50760379..50762064-chr13:50762698..50765040,2	MCF-7	breast:
3	chr13:50760644..50762180-chr13:51484579..51486384,2	K562	blood:
4	chr13:50760751..50763026-chr13:50764373..50766743,2	K562	blood:
5	chr13:50760570..50765179-chr13:50765243..50769828,5	K562	blood:
6	chr13:50760566..50762913-chr13:51108077..51110898,2	MCF-7	breast:
7	chr13:50749766..50752648-chr13:50760518..50762559,2	MCF-7	breast:
8	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233672	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1007852	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1359613	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965800	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1975371	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1985704	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2049286	0.84[JPT][hapmap]
rs2066625	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066626	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066627	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066629	0.89[JPT][hapmap];0.88[YRI][hapmap]
rs2066632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066634	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066640	0.80[JPT][hapmap]
rs2066654	0.85[JPT][hapmap]
rs2580184	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2580187	0.89[JPT][hapmap]
rs2687938	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703079	0.84[JPT][hapmap]
rs2740518	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740520	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2765756	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2765762	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812228	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats 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
7	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
8	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760400-50764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:50760800-50762200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:50760800-50762400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50761000-50762400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:50761000-50766400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:50761000-50766600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:50761200-50762800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:50761200-50763600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:50761200-50766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:50761200-50776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:50761400-50762200	Enhancers	Liver	Liver
13	chr13:50761400-50766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:50761600-50761800	Active TSS	HepG2	liver
15	chr13:50761600-50761800	Flanking Active TSS	K562	blood
16	chr13:50761600-50762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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