Variant report

Variant	rs34366473
Chromosome Location	chr11:34527901-34527902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34526903..34528651-chr11:34533771..34536128,2	MCF-7	breast:
2	chr11:34527017..34528547-chr11:34529974..34532022,2	K562	blood:

Variant related genes	Relation type
ENSG00000135374	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001179	0.90[ASN][1000 genomes]
rs11032718	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032722	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032723	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032724	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032726	0.86[EUR][1000 genomes]
rs11032728	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604331	0.90[ASN][1000 genomes]
rs12790145	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797274	1.00[ASN][1000 genomes]
rs1408041	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1535719	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17269903	0.86[EUR][1000 genomes]
rs17269931	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146962	0.86[EUR][1000 genomes]
rs2231821	1.00[ASN][1000 genomes]
rs2231828	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420386	0.86[EUR][1000 genomes]
rs34234992	1.00[ASN][1000 genomes]
rs34901344	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35495760	1.00[ASN][1000 genomes]
rs475043	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs494024	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs499406	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs508370	0.81[ASN][1000 genomes]
rs511895	0.90[ASN][1000 genomes]
rs524167	0.90[ASN][1000 genomes]
rs533425	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55898107	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560807	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs737254	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv897211	chr11:34514941-34609541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv897212	chr11:34523173-34621004	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	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
rs34366473	CAT	cis	Whole Blood	GTEx
rs34366473	CAT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34518400-34534800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34523800-34536800	Weak transcription	Right Atrium	heart
3	chr11:34524000-34531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:34524200-34530600	Weak transcription	Spleen	Spleen
5	chr11:34524200-34530800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:34524400-34531000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:34525200-34528200	Enhancers	HepG2	liver
8	chr11:34526800-34529200	Enhancers	Fetal Lung	lung
9	chr11:34527200-34528000	Enhancers	Hela-S3	cervix
10	chr11:34527400-34528000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:34527400-34531000	Weak transcription	Lung	lung

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