Variant report

Variant	rs926312
Chromosome Location	chr6:5607254-5607255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5604267..5607635-chr6:5611210..5613373,3	K562	blood:
2	chr6:5598894..5600945-chr6:5606990..5609322,2	K562	blood:
3	chr6:5606607..5608411-chr6:5609552..5611263,2	K562	blood:
4	chr6:5604267..5607635-chr6:5611344..5613997,3	K562	blood:

Variant related genes	Relation type
ENSG00000218574	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1124339	0.82[CEU][hapmap]
rs11755552	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11756138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11962015	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs11964159	1.00[CHB][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1546856	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs17133295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983564	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2064106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323358	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55762144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276929	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57607452	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61526984	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904473	0.93[ASN][1000 genomes]
rs6911625	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6918207	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6935073	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936430	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6942133	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs72817799	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760676	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760677	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751107	0.93[ASN][1000 genomes]
rs7769150	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328321	0.83[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs9378434	0.94[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs9502321	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9502322	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504442	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9504443	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504444	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504445	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504446	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9504447	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504448	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504449	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504450	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504451	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504452	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9504454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1016905	chr6:5566364-5639167	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1015549	chr6:5593965-5630468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5577400-5639800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5581000-5614200	Weak transcription	Lung	lung
3	chr6:5581000-5640400	Weak transcription	Gastric	stomach
4	chr6:5587200-5619400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5590800-5622000	Weak transcription	Right Atrium	heart
6	chr6:5591200-5619000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5591600-5626400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:5592200-5619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:5593400-5621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5603800-5614000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:5604800-5611000	Weak transcription	Pancreas	Pancrea
12	chr6:5605600-5618800	Weak transcription	Primary T cells from cord blood	blood
13	chr6:5605600-5619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:5605800-5617200	Weak transcription	Left Ventricle	heart
15	chr6:5607200-5614200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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