Variant report

Variant	rs2742469
Chromosome Location	chr11:9007651-9007652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8985135..8987434-chr11:9007571..9009954,2	K562	blood:

Variant related genes	Relation type
ENSG00000254860	Chromatin interaction
ENSG00000175348	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10769982	0.87[AMR][1000 genomes]
rs10840149	1.00[EUR][1000 genomes]
rs10840152	0.82[AFR][1000 genomes]
rs11042155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989143	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2568021	1.00[EUR][1000 genomes]
rs2568023	1.00[EUR][1000 genomes]
rs2568024	1.00[EUR][1000 genomes]
rs2568026	1.00[EUR][1000 genomes]
rs2568027	1.00[EUR][1000 genomes]
rs2568030	1.00[EUR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	1.00[EUR][1000 genomes]
rs2568083	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653561	1.00[EUR][1000 genomes]
rs2653563	1.00[EUR][1000 genomes]
rs2653571	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2653583	1.00[EUR][1000 genomes]
rs2653584	1.00[EUR][1000 genomes]
rs2653585	1.00[EUR][1000 genomes]
rs2653592	0.87[AFR][1000 genomes]
rs2653600	1.00[EUR][1000 genomes]
rs2653608	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742479	1.00[EUR][1000 genomes]
rs2742482	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742507	1.00[EUR][1000 genomes]
rs2742508	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	1.00[EUR][1000 genomes]
rs2742526	1.00[EUR][1000 genomes]
rs2742527	1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs6416158	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104415	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	1.00[EUR][1000 genomes]
rs7396427	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	1.00[EUR][1000 genomes]
rs7936297	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950826	0.87[AMR][1000 genomes];1.00[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
6	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:8994000-9008600	Weak transcription	K562	blood
12	chr11:8999600-9009800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:9001800-9015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9005600-9010200	Weak transcription	HUVEC	blood vessel
15	chr11:9005600-9010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:9006600-9008200	Enhancers	HepG2	liver
17	chr11:9007200-9007800	Enhancers	Fetal Brain Male	brain
18	chr11:9007200-9009600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:9007600-9009000	Weak transcription	Brain Germinal Matrix	brain

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