Variant report

Variant	rs11024223
Chromosome Location	chr11:17277693-17277694
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17276368..17279116-chr11:17296206..17298362,2	K562	blood:
2	chr11:17276902..17279261-chr11:17279604..17281506,2	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs105290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10741724	0.83[ASN][1000 genomes]
rs10766381	0.91[ASN][1000 genomes]
rs10766382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832733	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs10832745	0.89[ASN][1000 genomes]
rs10832746	0.89[ASN][1000 genomes]
rs10832747	0.89[ASN][1000 genomes]
rs10832748	0.83[ASN][1000 genomes]
rs10832750	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832753	0.83[LWK][hapmap];0.93[YRI][hapmap]
rs11024148	0.86[JPT][hapmap]
rs11024158	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs11024204	0.92[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11024207	0.91[ASN][1000 genomes]
rs11024208	0.91[ASN][1000 genomes]
rs11024220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024221	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024231	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1125737	0.85[ASN][1000 genomes]
rs12276859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280930	0.86[JPT][hapmap]
rs12286505	0.86[JPT][hapmap]
rs1488933	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190046	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1979603	0.91[ASN][1000 genomes]
rs214067	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214069	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214071	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214075	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214076	0.94[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214079	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214081	0.84[ASN][1000 genomes]
rs214082	0.92[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs214083	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs214084	0.84[ASN][1000 genomes]
rs214085	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214087	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214088	0.84[ASN][1000 genomes]
rs214092	0.91[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs214093	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs214094	0.83[ASN][1000 genomes]
rs214095	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214097	0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs214099	0.83[ASN][1000 genomes]
rs214101	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214102	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214900	0.91[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs214901	0.91[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs214902	0.87[EUR][1000 genomes]
rs214904	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214907	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214909	0.86[ASN][1000 genomes]
rs214910	0.92[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs214913	0.84[ASN][1000 genomes]
rs214914	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.86[ASN][1000 genomes]
rs214915	0.86[ASN][1000 genomes]
rs214916	0.86[ASN][1000 genomes]
rs214917	0.81[ASN][1000 genomes]
rs214918	0.86[ASN][1000 genomes]
rs214919	0.86[ASN][1000 genomes]
rs214920	0.86[ASN][1000 genomes]
rs214921	0.86[ASN][1000 genomes]
rs214922	0.86[ASN][1000 genomes]
rs214923	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs214925	0.92[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs214926	0.80[ASN][1000 genomes]
rs214927	0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs214933	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs214935	0.86[JPT][hapmap]
rs214936	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs214939	0.86[JPT][hapmap]
rs214940	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs2171615	0.83[ASN][1000 genomes]
rs4508187	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509731	0.88[ASN][1000 genomes]
rs512852	0.86[JPT][hapmap]
rs567033	0.81[EUR][1000 genomes]
rs603618	0.92[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs61357262	0.85[ASN][1000 genomes]
rs615358	0.86[JPT][hapmap]
rs618331	0.92[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs677042	0.81[EUR][1000 genomes]
rs677540	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7101686	0.84[ASN][1000 genomes]
rs7108315	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111505	0.85[AFR][1000 genomes]
rs7118443	0.83[ASN][1000 genomes]
rs7123301	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs7125607	0.86[JPT][hapmap]
rs7128822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342262	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs7925692	0.83[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7927240	0.86[JPT][hapmap]
rs7937176	0.93[ASN][1000 genomes]
rs7940253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949699	0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11024223	PDE3B	cis	parietal	SCAN
rs11024223	SERGEF	cis	parietal	SCAN
rs11024223	SAA4	cis	parietal	SCAN
rs11024223	RNU14	cis	multi-tissue	Pritchard
rs11024223	NUCB2	cis	lymphoblastoid	seeQTL
rs11024223	TMEM86A	cis	parietal	SCAN
rs11024223	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs11024223	NUCB2	cis	cerebellum	SCAN
rs11024223	GTF2H1	cis	cerebellum	SCAN
rs11024223	OR7E14P	cis	Nerve Tibial	GTEx
rs11024223	OR7E14P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17267000-17278800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:17272800-17277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:17273000-17278400	Weak transcription	Osteobl	bone
4	chr11:17275600-17277800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:17275600-17278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:17277200-17278200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:17277400-17279200	Enhancers	NHDF-Ad	bronchial
8	chr11:17277600-17278200	Enhancers	Hela-S3	cervix
9	chr11:17277600-17278400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:17277600-17279000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:17277600-17279000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:17277600-17279000	Enhancers	HMEC	breast
13	chr11:17277600-17279000	Enhancers	NHEK	skin
14	chr11:17277600-17279000	Enhancers	NHLF	lung

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