Variant report

Variant	rs9457219
Chromosome Location	chr6:167212002-167212003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167209245..167212049-chr6:167411313..167412932,2	K562	blood:

Variant related genes	Relation type
ENSG00000227598	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000272980	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10155715	1.00[ASN][1000 genomes]
rs11966381	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969416	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437290	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437312	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518299	1.00[ASN][1000 genomes]
rs55691444	1.00[ASN][1000 genomes]
rs55706390	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55744941	1.00[ASN][1000 genomes]
rs56329501	1.00[ASN][1000 genomes]
rs635808	1.00[ASN][1000 genomes]
rs6415092	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456124	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456125	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456126	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456127	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900604	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905053	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905072	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913410	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913892	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918691	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919216	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937137	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357046	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746335	0.87[EUR][1000 genomes]
rs7748360	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749522	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749771	1.00[ASN][1000 genomes]
rs7750567	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753589	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753731	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754623	1.00[ASN][1000 genomes]
rs7755921	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757084	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763744	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766940	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768138	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768490	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457204	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457205	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457208	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457209	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457210	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457214	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457217	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457222	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459745	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459746	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459747	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459748	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459749	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459750	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459756	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
14	nsv605333	chr6:167201033-167321693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167182200-167218600	Weak transcription	Right Atrium	heart
2	chr6:167208400-167213400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167209800-167218600	Weak transcription	Gastric	stomach
4	chr6:167210000-167214800	Weak transcription	Esophagus	oesophagus
5	chr6:167211600-167212600	Enhancers	Brain Cingulate Gyrus	brain
6	chr6:167211800-167212200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:167212000-167212200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:167212000-167212400	Enhancers	Brain Germinal Matrix	brain
9	chr6:167212000-167212600	Enhancers	Brain Anterior Caudate	brain

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