Variant report

Variant	rs2226842
Chromosome Location	chr11:87315008-87315009
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	EBF1	chr11:87314968-87315182	GM12878	blood:	n/a	chr11:87315092-87315103
2	EBF1	chr11:87314972-87315220	GM12878	blood:	n/a	chr11:87315092-87315103

Variant related genes	Relation type
RNU6-1135P	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010308	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10751169	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10792967	0.91[EUR][1000 genomes]
rs10792969	0.84[ASN][1000 genomes]
rs10792970	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898738	0.83[ASN][1000 genomes]
rs10898740	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898741	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898750	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10898758	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11235216	0.91[ASN][1000 genomes]
rs11235217	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235218	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235219	0.84[ASN][1000 genomes]
rs11235220	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235222	0.86[ASN][1000 genomes]
rs11235223	0.82[ASN][1000 genomes]
rs11235234	0.87[AFR][1000 genomes]
rs11235239	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11235240	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1194876	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs12806398	0.81[AMR][1000 genomes]
rs12806906	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12807875	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1320391	0.81[ASN][1000 genomes]
rs2019620	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2097037	0.82[ASN][1000 genomes]
rs2097040	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2156452	0.80[ASN][1000 genomes]
rs2156455	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187329	0.80[ASN][1000 genomes]
rs2212955	0.86[ASN][1000 genomes]
rs2226840	0.82[ASN][1000 genomes]
rs34815829	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35632205	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3924408	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4463863	0.83[ASN][1000 genomes]
rs4533056	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4943988	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944726	0.81[ASN][1000 genomes]
rs4944727	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944729	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944731	0.86[ASN][1000 genomes]
rs6592388	0.82[ASN][1000 genomes]
rs6592396	1.00[JPT][hapmap]
rs7127034	0.80[ASN][1000 genomes]
rs7924703	0.82[ASN][1000 genomes]
rs7935995	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7948614	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs940238	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv832224	chr11:87162121-87355923	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv898075	chr11:87278074-87375119	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
7	esv2760195	chr11:87295119-87329156	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv555715	chr11:87307553-87349407	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87314600-87315600	Enhancers	Aorta	Aorta
2	chr11:87314600-87315600	Enhancers	Psoas Muscle	Psoas
3	chr11:87314600-87315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:87314600-87315800	Enhancers	HMEC	breast
5	chr11:87314800-87315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:87314800-87315600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:87314800-87315600	Enhancers	NHEK	skin
8	chr11:87315000-87315400	Enhancers	Gastric	stomach
9	chr11:87315000-87315400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:87315000-87315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:87315000-87315600	Enhancers	Pancreas	Pancrea
12	chr11:87315000-87315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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