Variant report

Variant	rs706610
Chromosome Location	chr13:50715734-50715735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50696811..50698790-chr13:50714697..50717058,2	K562	blood:
2	chr13:50708042..50711233-chr13:50714851..50719539,6	K562	blood:
3	chr13:50698530..50704909-chr13:50711200..50717367,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12584761	0.86[ASN][1000 genomes]
rs17073758	0.84[ASN][1000 genomes]
rs2066593	0.82[CEU][hapmap]
rs2760911	0.82[CEU][hapmap]
rs4142286	0.88[ASN][1000 genomes]
rs4942903	1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs790943	0.82[CHB][hapmap]
rs809845	0.84[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535414	0.82[CEU][hapmap]
rs9535416	0.82[CEU][hapmap]
rs9562951	0.87[ASN][1000 genomes]
rs9568366	0.81[CHB][hapmap]
rs9568379	0.88[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs706610	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs706610	C13orf1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50714000-50715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr13:50714000-50716200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:50714000-50716200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:50714200-50715800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:50714200-50715800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:50714200-50715800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:50714200-50716200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:50714400-50715800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:50714400-50716000	Enhancers	NHLF	lung
10	chr13:50714600-50715800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:50714600-50716000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:50714600-50716400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:50714800-50716000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:50714800-50716400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:50715000-50715800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr13:50715000-50715800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr13:50715000-50716200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:50715000-50716200	Enhancers	HSMM	muscle
19	chr13:50715200-50715800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:50715200-50716200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:50715200-50717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:50715400-50715800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr13:50715400-50715800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr13:50715400-50715800	Weak transcription	Adipose Nuclei	Adipose
25	chr13:50715600-50715800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr13:50715600-50716000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:50715600-50716200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:50715600-50716200	Enhancers	Brain Hippocampus Middle	brain
29	chr13:50715600-50716200	Enhancers	Fetal Lung	lung
30	chr13:50715600-50726400	Weak transcription	Brain Cingulate Gyrus	brain

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