Variant report

Variant	rs11828110
Chromosome Location	chr11:108695669-108695670
allele	C/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	TCF12	chr11:108695029-108695760	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr11:108695091-108695757	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr11:108695136-108695744	SK-N-SH	brain:	n/a	chr11:108695478-108695488

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108694511..108697317-chr11:108697385..108699740,2	K562	blood:
2	chr11:108695140..108698034-chr11:108715327..108717673,2	K562	blood:

Variant related genes	Relation type
CYCSP29	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10502103	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12574567	0.80[ASN][1000 genomes]
rs12574721	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574758	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575278	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577382	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12577980	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12785398	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12785439	0.90[ASN][1000 genomes]
rs12786616	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12790940	0.81[AMR][1000 genomes]
rs12794048	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12794597	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12795663	0.84[EUR][1000 genomes]
rs12796331	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12800516	0.83[EUR][1000 genomes]
rs12800726	0.84[EUR][1000 genomes]
rs12801974	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12802313	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12803616	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12808060	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12808674	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462787	0.88[ASN][1000 genomes]
rs17108571	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108579	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108608	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17108703	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17108744	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061681	0.90[ASN][1000 genomes]
rs2553749	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553750	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553751	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2615727	0.85[ASN][1000 genomes]
rs2615756	0.93[ASN][1000 genomes]
rs2726885	0.88[ASN][1000 genomes]
rs2726896	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28736339	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34138098	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34180595	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34350110	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34354308	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34451436	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34593113	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34805458	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34848528	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34942750	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35085871	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35244070	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35430545	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35517426	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35525430	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35754206	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35777838	0.85[EUR][1000 genomes]
rs36006135	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36034048	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36043878	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4317954	0.87[ASN][1000 genomes]
rs57014838	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57484308	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71489913	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71489916	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71489918	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71489919	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71489922	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71489925	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71489928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930675	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs898972	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs970162	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs970164	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108675600-108709400	Weak transcription	Left Ventricle	heart
2	chr11:108675800-108700000	Weak transcription	GM12878-XiMat	blood
3	chr11:108676000-108708000	Weak transcription	Primary B cells from cord blood	blood
4	chr11:108677600-108709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:108680400-108709400	Weak transcription	Primary T cells from cord blood	blood
6	chr11:108680600-108724400	Weak transcription	Aorta	Aorta
7	chr11:108687000-108717000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:108692200-108709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:108694800-108696000	Enhancers	HUVEC	blood vessel
10	chr11:108695000-108696400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:108695200-108696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:108695200-108696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:108695400-108697200	Weak transcription	Spleen	Spleen
14	chr11:108695600-108696200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:108695600-108696400	Enhancers	Fetal Kidney	kidney
16	chr11:108695600-108698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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