Variant report

Variant	rs7949405
Chromosome Location	chr11:17085192-17085193
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16967480..16968226-chr11:17084925..17085584,5	MCF-7	breast:
2	chr11:16966859..16968159-chr11:17084631..17085602,16	MCF-7	breast:
3	chr11:16957436..16957968-chr11:17084808..17085604,2	MCF-7	breast:
4	chr11:16967205..16968144-chr11:17084611..17085599,4	K562	blood:
5	chr11:17037168..17039319-chr11:17083342..17085313,2	MCF-7	breast:
6	chr11:16841944..16842456-chr11:17084770..17085286,2	MCF-7	breast:
7	chr11:16809483..16810382-chr11:17084674..17085567,3	MCF-7	breast:
8	chr11:16809642..16810608-chr11:17084703..17085602,3	K562	blood:
9	chr11:17085165..17088143-chr11:17093678..17095207,2	MCF-7	breast:
10	chr11:16965139..16965875-chr11:17084804..17085626,2	K562	blood:
11	chr11:16957493..16958020-chr11:17084682..17085371,2	MCF-7	breast:

No data

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10766373	0.86[ASN][1000 genomes]
rs10832725	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832729	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10832731	0.80[ASN][1000 genomes]
rs10832733	0.81[CHB][hapmap]
rs11024113	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024116	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024130	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024131	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024148	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs11024149	0.88[ASN][1000 genomes]
rs11024151	0.86[ASN][1000 genomes]
rs11024223	0.83[CHB][hapmap]
rs12288579	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12293395	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575466	0.82[EUR][1000 genomes]
rs12794156	0.84[EUR][1000 genomes]
rs17472886	0.88[ASN][1000 genomes]
rs214933	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs34902253	0.93[AMR][1000 genomes]
rs4255517	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4456241	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4468326	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4517490	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56030184	0.88[EUR][1000 genomes]
rs61690307	0.83[AMR][1000 genomes]
rs6486345	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6486346	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486347	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486348	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7104247	0.91[ASN][1000 genomes]
rs71047522	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7106954	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7107283	0.83[ASN][1000 genomes]
rs7117166	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7125607	0.90[CHB][hapmap]
rs7130826	0.95[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7924495	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7927240	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs7929927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7930058	0.93[ASN][1000 genomes]
rs7932916	0.82[ASN][1000 genomes]
rs7934571	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7934608	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7934694	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7935162	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7935420	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7935677	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7937880	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938820	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs7939614	0.88[ASN][1000 genomes]
rs7939750	0.88[ASN][1000 genomes]
rs7946165	0.88[ASN][1000 genomes]
rs7949699	0.81[CHB][hapmap]
rs7950225	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952426	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9919540	0.88[ASN][1000 genomes]
rs9919600	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7949405	NUCB2	cis	lymphoblastoid	seeQTL
rs7949405	PDE3B	cis	parietal	SCAN
rs7949405	BTBD10	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17069400-17096200	Weak transcription	Pancreas	Pancrea
2	chr11:17070600-17088400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:17079400-17094600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:17083800-17093800	Weak transcription	A549	lung
5	chr11:17084400-17095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:17084800-17095200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:17085000-17085400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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