Variant report

Variant	rs7106676
Chromosome Location	chr11:27014032-27014033
allele	C/T
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	TCF12	chr11:27013373-27014328	SK-N-SH	brain:	n/a	n/a
2	CEBPB	chr11:27013429-27014037	IMR90	lung:	n/a	chr11:27013752-27013765 chr11:27013643-27013656 chr11:27013752-27013765 chr11:27013644-27013655 chr11:27013643-27013654
3	TCF12	chr11:27013427-27014296	SK-N-SH	brain:	n/a	n/a
4	MAFK	chr11:27013932-27014128	Hela-S3	cervix:	n/a	chr11:27013966-27013982 chr11:27013971-27013982 chr11:27013966-27013981
5	MAFK	chr11:27013926-27014080	HepG2	liver:	n/a	chr11:27013966-27013982 chr11:27013971-27013982 chr11:27013966-27013981
6	MAFK	chr11:27013571-27014151	IMR90	lung:	n/a	chr11:27013966-27013982 chr11:27013971-27013982 chr11:27013966-27013981
7	MAFF	chr11:27013902-27014099	HepG2	liver:	n/a	chr11:27013965-27013983
8	MAFK	chr11:27013932-27014106	HepG2	liver:	n/a	chr11:27013966-27013982 chr11:27013971-27013982 chr11:27013966-27013981
9	RCOR1	chr11:27013130-27014398	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
FIBIN	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10835087	0.84[ASN][1000 genomes]
rs10835088	0.91[ASN][1000 genomes]
rs10835090	0.91[ASN][1000 genomes]
rs10835091	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10835092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11029763	0.80[AFR][1000 genomes]
rs11029765	0.80[AFR][1000 genomes]
rs11822375	0.91[ASN][1000 genomes]
rs12275693	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs12279228	0.86[ASN][1000 genomes]
rs12280405	0.91[ASN][1000 genomes]
rs12281076	0.86[ASN][1000 genomes]
rs12282845	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284935	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285735	0.86[ASN][1000 genomes]
rs12286240	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286282	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287195	0.80[AFR][1000 genomes]
rs12293478	0.91[ASN][1000 genomes]
rs12421183	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12576182	0.91[ASN][1000 genomes]
rs12576904	0.80[AFR][1000 genomes]
rs12577937	0.91[ASN][1000 genomes]
rs12578018	0.91[ASN][1000 genomes]
rs1445333	0.86[ASN][1000 genomes]
rs34681631	0.84[ASN][1000 genomes]
rs36102095	0.91[ASN][1000 genomes]
rs59417854	0.86[ASN][1000 genomes]
rs59447780	0.86[ASN][1000 genomes]
rs59654892	0.86[ASN][1000 genomes]
rs7107282	0.86[ASN][1000 genomes]
rs7108314	0.83[YRI][hapmap]
rs7111860	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs7125909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940358	0.80[AFR][1000 genomes]
rs7940518	0.89[ASN][1000 genomes]
rs959042	0.86[ASN][1000 genomes]
rs959043	0.86[ASN][1000 genomes]
rs959044	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv897146	chr11:26913936-27019331	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv949332	chr11:26935972-27223492	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv897147	chr11:26983363-27258899	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040964	chr11:26998213-27223388	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv540975	chr11:26998213-27223388	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv949575	chr11:27005687-27233359	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv533052	chr11:27006061-27225374	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv553912	chr11:27014032-27240951	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27006200-27014800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:27008000-27015400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:27011400-27015200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:27012600-27014400	Enhancers	Colon Smooth Muscle	Colon
5	chr11:27012800-27014200	Enhancers	Fetal Lung	lung
6	chr11:27012800-27015000	Enhancers	NHDF-Ad	bronchial
7	chr11:27013000-27014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:27013000-27014200	Enhancers	Fetal Stomach	stomach
9	chr11:27013000-27014200	Enhancers	HMEC	breast
10	chr11:27013000-27014400	Enhancers	HSMMtube	muscle
11	chr11:27013000-27014400	Enhancers	NHLF	lung
12	chr11:27013000-27014600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:27013000-27014600	Enhancers	Osteobl	bone
14	chr11:27013200-27014200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:27013200-27014600	Enhancers	Adipose Nuclei	Adipose
16	chr11:27013200-27014600	Weak transcription	Aorta	Aorta
17	chr11:27013200-27015000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:27013200-27015400	Enhancers	HSMM	muscle
19	chr11:27013400-27014200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:27013400-27014200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:27013400-27014200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:27013400-27015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:27013600-27014200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:27013800-27014200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:27013800-27014200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:27013800-27014200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:27013800-27014400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:27013800-27014400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:27014000-27014200	Enhancers	Ovary	ovary
30	chr11:27014000-27014400	Enhancers	Psoas Muscle	Psoas
31	chr11:27014000-27015200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:27014000-27015400	Weak transcription	NH-A	brain

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