Variant report

Variant	rs4936528
Chromosome Location	chr11:120474008-120474009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120467473..120469063-chr11:120472319..120475182,2	K562	blood:
2	chr11:120471375..120475436-chr11:120476870..120481241,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11217924	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274778	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1316812	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1317814	0.92[EUR][1000 genomes]
rs1317815	0.98[EUR][1000 genomes]
rs17124064	0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17124081	0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17245580	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4312073	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4375451	0.83[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4935743	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4935744	0.91[CEU][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs4936533	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs56763747	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57461612	0.86[ASN][1000 genomes]
rs58047799	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59127761	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60787798	0.98[EUR][1000 genomes]
rs61900926	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7131215	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002644	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73002650	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73574448	0.86[ASN][1000 genomes]
rs73574451	0.86[ASN][1000 genomes]
rs73590034	0.93[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4936528	FXYD6	cis	cerebellum	SCAN
rs4936528	C1QTNF5	cis	parietal	SCAN
rs4936528	PDZD3	cis	parietal	SCAN
rs4936528	BUD13	cis	cerebellum	SCAN
rs4936528	BCL9L	cis	parietal	SCAN
rs4936528	ASAM	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120468600-120479400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120468600-120479400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120471000-120479400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120471200-120479200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:120471400-120476400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:120471400-120479400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:120471800-120476000	Weak transcription	GM12878-XiMat	blood
8	chr11:120472600-120479200	Weak transcription	Fetal Kidney	kidney
9	chr11:120473000-120475000	Weak transcription	Fetal Lung	lung
10	chr11:120473000-120478000	Weak transcription	Fetal Brain Male	brain
11	chr11:120473800-120474200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:120473800-120474600	Enhancers	Ovary	ovary
13	chr11:120474000-120474200	Enhancers	NH-A	brain

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