Variant report

Variant	rs2740517
Chromosome Location	chr13:50762560-50762561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2049286	0.85[GIH][hapmap]
rs2066628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2580189	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2765765	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2812198	1.00[CHB][hapmap];0.83[JPT][hapmap]

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:18 , 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	chr13:50761000-50766400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:50761000-50766600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:50761200-50762800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:50761200-50763600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:50761200-50766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:50761200-50776400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:50761400-50766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:50761600-50762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:50761800-50762600	Flanking Active TSS	HepG2	liver
12	chr13:50761800-50764000	Enhancers	K562	blood
13	chr13:50762200-50762600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:50762200-50763000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:50762200-50763400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:50762200-50763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:50762400-50762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:50762400-50763400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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