Variant report

Variant	rs1407216
Chromosome Location	chr6:161768004-161768005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161689546..161691232-chr6:161766488..161768941,2	K562	blood:
2	chr6:161694085..161696791-chr6:161764026..161768150,4	K562	blood:
3	chr6:161767644..161770802-chr6:161771608..161773725,3	K562	blood:
4	chr6:161767119..161768691-chr6:161769859..161772026,2	K562	blood:
5	chr6:161767495..161769144-chr6:161772225..161774509,3	K562	blood:
6	chr6:161507724..161510656-chr6:161766500..161768672,2	K562	blood:

Variant related genes	Relation type
ENSG00000026652	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1122470	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961244	0.95[EUR][1000 genomes]
rs11964243	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11969381	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1407212	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1407213	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892477	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3798963	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798964	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[ASN][1000 genomes]
rs3798965	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56947131	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57267826	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58525490	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58931583	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59233961	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59396763	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60053958	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60069941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60132108	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60142618	0.89[EUR][1000 genomes]
rs60212465	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60561960	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60885647	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6927657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73598874	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73598878	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73598883	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73598902	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73600905	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600907	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73600908	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73600936	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7739854	0.88[ASN][1000 genomes]
rs7742850	0.81[ASN][1000 genomes]
rs7776206	0.81[ASN][1000 genomes]
rs9458219	1.00[EUR][1000 genomes]
rs9458225	0.82[JPT][hapmap]
rs9458229	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1025168	chr6:161702621-161831885	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 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	chr6:161763400-161782000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:161766200-161768200	Enhancers	Fetal Intestine Large	intestine
3	chr6:161767400-161768400	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:161767400-161768600	Enhancers	Brain Substantia Nigra	brain
5	chr6:161767600-161768400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr6:161767800-161768400	Enhancers	Brain Angular Gyrus	brain
7	chr6:161767800-161768400	Enhancers	Brain Anterior Caudate	brain
8	chr6:161767800-161768600	Enhancers	Brain Hippocampus Middle	brain

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