Variant report

Variant	rs11702314
Chromosome Location	chr21:45276007-45276008
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45274087..45276071-chr21:45284216..45286034,2	MCF-7	breast:
2	chr21:45229515..45232052-chr21:45272967..45276127,3	K562	blood:

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1006757	0.82[JPT][hapmap]
rs11089101	0.81[EUR][1000 genomes]
rs11089102	0.96[CEU][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12483101	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13046001	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13046826	0.83[EUR][1000 genomes]
rs13047961	0.86[ASN][1000 genomes]
rs13049717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050512	0.84[ASN][1000 genomes]
rs1573338	0.83[JPT][hapmap]
rs1573339	0.83[JPT][hapmap]
rs1573473	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014085	0.92[ASN][1000 genomes]
rs2329581	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838438	0.82[JPT][hapmap]
rs2838440	0.82[JPT][hapmap]
rs2838441	0.82[JPT][hapmap]
rs762412	0.81[EUR][1000 genomes]
rs8131889	0.82[ASN][1000 genomes]
rs9637176	0.82[ASN][1000 genomes]
rs9637232	0.85[ASN][1000 genomes]
rs9637233	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11702314	CSTB	cis	lymphoblastoid	seeQTL
rs11702314	LOC284837	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45267600-45280400	Weak transcription	Gastric	stomach
2	chr21:45274200-45276200	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:45274200-45276200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:45274400-45276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:45274400-45276200	Enhancers	Fetal Thymus	thymus
6	chr21:45274600-45276200	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:45274800-45276200	Enhancers	Primary B cells from cord blood	blood
8	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:45275200-45276200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:45275200-45276200	Enhancers	GM12878-XiMat	blood
11	chr21:45275200-45276800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:45275200-45279200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:45275200-45279200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45275400-45276200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr21:45275600-45276200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:45275800-45276200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45275800-45277200	Weak transcription	Hela-S3	cervix
18	chr21:45276000-45276200	Enhancers	Fetal Muscle Leg	muscle
19	chr21:45276000-45276200	Enhancers	HepG2	liver
20	chr21:45276000-45276200	Enhancers	K562	blood
21	chr21:45276000-45280000	Weak transcription	Placenta	Placenta
22	chr21:45276000-45280600	Weak transcription	Lung	lung
23	chr21:45276000-45280600	Weak transcription	Spleen	Spleen

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