Variant report

Variant	rs7124676
Chromosome Location	chr11:64313291-64313292
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 30 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11231814	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11231816	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.81[MEX][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	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17300741	0.92[CEU][hapmap];0.84[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs17300895	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17372915	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078267	0.86[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap];0.92[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];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759053	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.96[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]
rs4930426	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]
rs57827982	0.84[EUR][1000 genomes]
rs7102027	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71456318	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929308	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7936185	1.00[ASN][1000 genomes]
rs7940321	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7943154	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7124676	RAB3IL1	cis	parietal	SCAN
rs7124676	PYGM	cis	parietal	SCAN
rs7124676	RTN3	cis	parietal	SCAN
rs7124676	MARK2	cis	parietal	SCAN
rs7124676	TBC1D10C	cis	cerebellum	SCAN
rs7124676	NAA40	cis	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64307400-64315600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64310600-64314400	Enhancers	NHEK	skin
3	chr11:64311800-64314400	Enhancers	HMEC	breast
4	chr11:64312200-64314000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:64312200-64314000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:64312200-64314200	Enhancers	Placenta	Placenta
7	chr11:64312400-64314200	Enhancers	A549	lung
8	chr11:64312600-64314400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:64312800-64313400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:64312800-64313400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:64312800-64313800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:64312800-64314000	Enhancers	HUVEC	blood vessel
13	chr11:64312800-64314000	Enhancers	NH-A	brain
14	chr11:64312800-64314200	Enhancers	NHDF-Ad	bronchial
15	chr11:64313000-64313400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64313000-64313400	Enhancers	Esophagus	oesophagus
17	chr11:64313000-64313600	Enhancers	Osteobl	bone
18	chr11:64313200-64313400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:64313200-64314400	Enhancers	Hela-S3	cervix

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