Variant report

Variant	rs657474
Chromosome Location	chr11:74262213-74262214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74204260..74205871-chr11:74261275..74263118,3	MCF-7	breast:
2	chr11:74260568..74263250-chr11:74263380..74264932,2	K562	blood:
3	chr11:74257209..74260108-chr11:74260468..74264271,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175536	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000254837	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10736800	0.81[AFR][1000 genomes]
rs1280207	0.88[LWK][hapmap]
rs1315212	0.80[LWK][hapmap]
rs1315220	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1315221	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1315223	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1316182	0.86[ASW][hapmap]
rs1433968	0.81[AFR][1000 genomes]
rs2509562	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs2509563	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs645541	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs645918	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647824	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs648677	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs659581	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs660107	0.81[AFR][1000 genomes]
rs660855	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs661781	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs663016	0.81[ASW][hapmap]
rs663499	0.85[AFR][1000 genomes]
rs663555	0.81[ASW][hapmap]
rs673781	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674306	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs675086	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs676537	0.81[ASW][hapmap];0.83[LWK][hapmap]
rs694606	0.83[AFR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs657474	KRTAP5-11	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74258600-74262400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:74259800-74263800	Weak transcription	Stomach Mucosa	stomach
3	chr11:74261800-74262600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:74262000-74262600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:74262000-74262600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:74262000-74262600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:74262000-74262600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:74262000-74262600	Enhancers	Brain Substantia Nigra	brain
9	chr11:74262000-74262800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:74262000-74262800	Enhancers	Liver	Liver
11	chr11:74262000-74262800	Enhancers	Brain Anterior Caudate	brain
12	chr11:74262200-74262600	Enhancers	Pancreas	Pancrea
13	chr11:74262200-74262600	Enhancers	Right Ventricle	heart
14	chr11:74262200-74262600	Enhancers	HepG2	liver
15	chr11:74262200-74262800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:74262200-74262800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:74262200-74262800	Enhancers	Brain Hippocampus Middle	brain
18	chr11:74262200-74262800	Enhancers	Psoas Muscle	Psoas
19	chr11:74262200-74262800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:74262200-74263000	Enhancers	Skeletal Muscle Male	skeletal muscle

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