Variant report

Variant	rs7342262
Chromosome Location	chr11:17285807-17285808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr11:17285218-17285847	HCT-116	colon:	n/a	n/a
2	FOS	chr11:17285320-17285911	HUVEC	blood vessel:	n/a	chr11:17285531-17285542
3	GATA3	chr11:17285194-17285876	SK-N-SH	brain:	n/a	n/a
4	JUND	chr11:17285168-17285937	SK-N-SH	brain:	n/a	chr11:17285531-17285542

No.	Distal block	Cell Line	Cell type
1	chr11:17284490..17286833-chr11:17298188..17300234,2	K562	blood:
2	chr11:17278678..17282640-chr11:17283313..17286306,4	K562	blood:
3	chr11:17278678..17280712-chr11:17283886..17286306,2	K562	blood:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs105290	0.86[ASN][1000 genomes]
rs10741724	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10766381	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10766382	0.91[ASN][1000 genomes]
rs10832733	0.96[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs10832736	0.82[EUR][1000 genomes]
rs10832739	0.87[EUR][1000 genomes]
rs10832743	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832745	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832746	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832747	0.96[CEU][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832748	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832750	0.89[ASN][1000 genomes]
rs10832752	0.92[CHB][hapmap];0.93[ASN][1000 genomes]
rs11024148	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap]
rs11024158	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs11024159	0.87[EUR][1000 genomes]
rs11024163	0.87[EUR][1000 genomes]
rs11024204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024207	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024208	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024220	0.91[ASN][1000 genomes]
rs11024221	0.91[ASN][1000 genomes]
rs11024223	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs11024227	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024229	0.93[ASN][1000 genomes]
rs11024231	0.93[ASN][1000 genomes]
rs1125737	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11821773	0.82[EUR][1000 genomes]
rs12276859	0.91[ASN][1000 genomes]
rs12280930	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs12286505	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.88[EUR][1000 genomes]
rs1236309	0.86[EUR][1000 genomes]
rs12804000	0.89[EUR][1000 genomes]
rs1488933	0.91[ASN][1000 genomes]
rs1685932	0.90[EUR][1000 genomes]
rs190046	0.86[ASN][1000 genomes]
rs1979603	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989405	0.89[EUR][1000 genomes]
rs2052188	0.87[EUR][1000 genomes]
rs214068	0.82[ASN][1000 genomes]
rs214069	0.80[ASN][1000 genomes]
rs214071	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs214075	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs214076	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs214077	0.85[ASN][1000 genomes]
rs214079	0.85[ASN][1000 genomes]
rs214080	0.84[ASN][1000 genomes]
rs214081	0.93[ASN][1000 genomes]
rs214082	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs214083	1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs214084	0.93[ASN][1000 genomes]
rs214085	0.84[ASN][1000 genomes]
rs214087	0.85[ASN][1000 genomes]
rs214088	0.93[ASN][1000 genomes]
rs214092	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs214093	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs214094	0.92[ASN][1000 genomes]
rs214095	0.84[ASN][1000 genomes]
rs214097	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs214099	0.92[ASN][1000 genomes]
rs214101	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs214102	0.93[ASN][1000 genomes]
rs214900	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214901	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214906	0.87[EUR][1000 genomes]
rs214907	0.84[ASN][1000 genomes]
rs214909	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214911	0.88[EUR][1000 genomes]
rs214912	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214913	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214914	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214915	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214916	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214917	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214918	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214919	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214920	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214921	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214922	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs214923	0.84[ASN][1000 genomes]
rs214925	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214926	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214927	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214935	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes]
rs214936	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs214937	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs214939	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs214940	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2171615	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35933265	0.80[EUR][1000 genomes]
rs4356203	0.88[CEU][hapmap]
rs4508187	0.91[ASN][1000 genomes]
rs4509731	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs511119	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs512852	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs527810	0.88[EUR][1000 genomes]
rs536628	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs545773	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550667	0.96[CEU][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs553711	0.88[EUR][1000 genomes]
rs577207	0.89[EUR][1000 genomes]
rs589319	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59192183	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs594034	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs598946	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs603618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61357262	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615358	0.88[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs618331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61881888	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs620241	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs621246	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs635802	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6486352	0.88[EUR][1000 genomes]
rs6486354	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6486358	0.85[EUR][1000 genomes]
rs651513	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs656623	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs662711	0.90[EUR][1000 genomes]
rs667984	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs677540	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs680205	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7101686	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7108315	0.91[ASN][1000 genomes]
rs7108316	0.85[ASN][1000 genomes]
rs7118006	0.86[EUR][1000 genomes]
rs7118443	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7123301	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.88[EUR][1000 genomes]
rs7125607	0.96[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap]
rs7128822	0.91[ASN][1000 genomes]
rs7396382	0.87[EUR][1000 genomes]
rs7396958	0.87[EUR][1000 genomes]
rs7478986	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7925692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935219	0.87[EUR][1000 genomes]
rs7937176	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7940253	0.85[ASN][1000 genomes]
rs7940418	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7946010	0.88[EUR][1000 genomes]
rs7949699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7342262	NUCB2	cis	multi-tissue	Pritchard
rs7342262	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs7342262	OR7E14P	cis	Esophagus Mucosa	GTEx
rs7342262	NUCB2	cis	Lymphoblastoid	GTEx
rs7342262	OR7E14P	cis	Nerve Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17278800-17288800	Weak transcription	Placenta	Placenta
2	chr11:17284400-17286000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:17284600-17286000	Enhancers	Osteobl	bone
4	chr11:17284600-17286400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:17284800-17286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17284800-17286000	Enhancers	HMEC	breast
7	chr11:17285200-17286000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:17285200-17286000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:17285200-17286000	Enhancers	A549	lung
10	chr11:17285200-17286000	Enhancers	Hela-S3	cervix
11	chr11:17285200-17286000	Enhancers	NHEK	skin
12	chr11:17285400-17286000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:17285600-17286200	Enhancers	Esophagus	oesophagus
14	chr11:17285800-17288800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:17285800-17289800	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links