Variant report

Variant	rs4930426
Chromosome Location	chr11:64315914-64315915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64312302-64322633..11:64538326-64543055	K562	blood:
2	11:64312302-64322633..11:64426650-64437729	K562	blood:
3	11:64312302-64322633..11:64517861-64519906	K562	blood:
4	11:64312302-64322633..11:64489786-64499245	K562	blood:
5	11:64312302-64322633..11:64523887-64530985	Hela-S3	cervix:
6	11:64312302-64322633..11:64356433-64395036	K562	blood:
7	chr11:64311826..64313393-chr11:64315068..64317928,2	MCF-7	breast:
8	11:64312302-64322633..11:64402707-64415880	Hela-S3	cervix:
9	chr11:64314373..64316707-chr11:64321089..64323298,2	K562	blood:
10	11:64312302-64322633..11:64501239-64517861	K562	blood:
11	11:64312302-64322633..11:64642645-64655002	K562	blood:
12	11:64312302-64322633..11:64415880-64426617	H1-hESC	embryonic stem cell:	embryo
13	11:64207610-64216678..11:64312302-64322633	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181908	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000197891	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168065	Chromatin interaction
ENSG00000230835	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11231816	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11231822	0.81[EUR][1000 genomes]
rs12363578	0.92[ASN][1000 genomes]
rs12808503	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17300741	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs17300895	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17372915	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078267	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2164495	1.00[ASN][1000 genomes]
rs2277312	0.90[EUR][1000 genomes]
rs34484509	1.00[ASN][1000 genomes]
rs34812986	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759053	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3782099	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4930194	0.92[ASN][1000 genomes]
rs4930420	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4930423	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57827982	0.85[EUR][1000 genomes]
rs7102027	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7124676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71456318	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929308	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7936185	1.00[ASN][1000 genomes]
rs7940321	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7943154	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64315200-64316200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:64315800-64316800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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