Variant report

Variant	rs2568067
Chromosome Location	chr11:8893716-8893717
allele	A/C
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	FOXA2	chr11:8893542-8893774	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ST5	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11042113	0.95[ASN][1000 genomes]
rs2116513	1.00[ASN][1000 genomes]
rs2436176	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2568040	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2568048	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2568073	0.88[ASN][1000 genomes]
rs2568076	0.93[ASN][1000 genomes]
rs2653599	0.93[ASN][1000 genomes]
rs2653617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2742492	0.84[ASN][1000 genomes]
rs2742506	0.88[ASN][1000 genomes]
rs2742509	0.88[ASN][1000 genomes]
rs2742522	0.91[ASN][1000 genomes]
rs4910179	0.86[ASN][1000 genomes]
rs56947653	0.93[ASN][1000 genomes]
rs891787	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv3402630	chr11:8887304-8893757	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3325077	chr11:8887314-8893755	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8891400-8894000	Active TSS	Stomach Smooth Muscle	stomach
2	chr11:8892800-8895400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:8892800-8906600	Weak transcription	Spleen	Spleen
4	chr11:8893200-8893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:8893200-8893800	Enhancers	Placenta	Placenta
6	chr11:8893200-8893800	Flanking Active TSS	NHDF-Ad	bronchial
7	chr11:8893200-8894400	Weak transcription	Psoas Muscle	Psoas
8	chr11:8893200-8895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:8893200-8895400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:8893400-8893800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:8893400-8893800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:8893400-8893800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:8893400-8893800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:8893400-8893800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:8893400-8893800	Enhancers	Fetal Heart	heart
16	chr11:8893400-8893800	Enhancers	Fetal Intestine Large	intestine
17	chr11:8893400-8893800	Enhancers	Fetal Intestine Small	intestine
18	chr11:8893400-8893800	Enhancers	Pancreas	Pancrea
19	chr11:8893400-8893800	Enhancers	Hela-S3	cervix
20	chr11:8893400-8893800	Enhancers	HSMM	muscle
21	chr11:8893400-8894000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:8893400-8894000	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:8893400-8894000	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:8893400-8894200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:8893400-8894200	Enhancers	HSMMtube	muscle
26	chr11:8893400-8894400	Enhancers	Fetal Kidney	kidney
27	chr11:8893400-8894400	Enhancers	Ovary	ovary
28	chr11:8893400-8894600	Enhancers	Fetal Muscle Leg	muscle
29	chr11:8893400-8895400	Enhancers	Fetal Lung	lung
30	chr11:8893400-8895600	Weak transcription	Stomach Mucosa	stomach
31	chr11:8893400-8896600	Enhancers	Fetal Stomach	stomach
32	chr11:8893600-8893800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:8893600-8893800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:8893600-8893800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:8893600-8893800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:8893600-8893800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:8893600-8893800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:8893600-8893800	Enhancers	A549	lung
39	chr11:8893600-8893800	Enhancers	Osteobl	bone
40	chr11:8893600-8894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:8893600-8894000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:8893600-8894200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:8893600-8894400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:8893600-8894400	Enhancers	Colon Smooth Muscle	Colon
45	chr11:8893600-8894400	Enhancers	NHLF	lung
46	chr11:8893600-8894600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:8893600-8895800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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