Variant report

Variant	rs571854
Chromosome Location	chr11:120057100-120057101
allele	A/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	POLR2A	chr11:120056977-120057169	HepG2	liver:	n/a	n/a
2	EBF1	chr11:120057089-120058070	GM12878	blood:	n/a	chr11:120057627-120057637 chr11:120057627-120057636 chr11:120057626-120057637
3	HEY1	chr11:120055649-120057285	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:120056850-120057502	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:120055424-120058056	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TRIM29	TF binding region

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12291190	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2508491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511023	0.86[ASN][1000 genomes]
rs471776	0.95[ASN][1000 genomes]
rs481599	0.85[EUR][1000 genomes]
rs488615	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs490819	0.95[ASN][1000 genomes]
rs507419	0.85[EUR][1000 genomes]
rs508266	0.85[EUR][1000 genomes]
rs513638	0.85[EUR][1000 genomes]
rs518863	0.96[ASN][1000 genomes]
rs546441	0.95[ASN][1000 genomes]
rs547897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548215	0.89[ASN][1000 genomes]
rs551843	0.95[ASN][1000 genomes]
rs561218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574563	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs579368	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:120051600-120057600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:120051800-120057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:120052000-120057200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120052000-120057400	Weak transcription	NH-A	brain
6	chr11:120052200-120058200	Weak transcription	Fetal Brain Female	brain
7	chr11:120052600-120058200	Enhancers	Fetal Lung	lung
8	chr11:120053000-120057400	Weak transcription	Brain Angular Gyrus	brain
9	chr11:120053000-120057800	Flanking Active TSS	HepG2	liver
10	chr11:120053800-120058000	Enhancers	NHDF-Ad	bronchial
11	chr11:120054200-120057200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:120054200-120057600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:120054400-120057600	Weak transcription	Fetal Heart	heart
14	chr11:120054800-120057800	Enhancers	Fetal Kidney	kidney
15	chr11:120055400-120057400	Enhancers	Placenta	Placenta
16	chr11:120055400-120057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:120055400-120057600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:120055400-120058200	Enhancers	Stomach Mucosa	stomach
19	chr11:120055400-120058800	Enhancers	NHLF	lung
20	chr11:120055400-120059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:120055600-120057200	Enhancers	Brain Germinal Matrix	brain
22	chr11:120055600-120057200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:120055600-120058400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:120055600-120059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:120055800-120058400	Enhancers	Fetal Brain Male	brain
26	chr11:120055800-120058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:120055800-120059000	Enhancers	Small Intestine	intestine
28	chr11:120055800-120059400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:120056000-120058200	Enhancers	Spleen	Spleen
30	chr11:120056000-120058600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:120056000-120060200	Enhancers	Ovary	ovary
32	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
33	chr11:120056200-120057200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:120056200-120057800	Enhancers	Adipose Nuclei	Adipose
35	chr11:120056200-120057800	Enhancers	Colonic Mucosa	Colon
36	chr11:120056200-120058000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:120056200-120058200	Enhancers	Liver	Liver
38	chr11:120056200-120058200	Enhancers	Fetal Intestine Small	intestine
39	chr11:120056200-120058200	Enhancers	Fetal Muscle Leg	muscle
40	chr11:120056200-120058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:120056200-120059200	Enhancers	Fetal Intestine Large	intestine
42	chr11:120056200-120060800	Enhancers	Pancreas	Pancrea
43	chr11:120056400-120058200	Enhancers	Fetal Muscle Trunk	muscle
44	chr11:120056400-120059000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:120056400-120060200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:120056600-120057400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr11:120056600-120057600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr11:120056600-120057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:120056600-120058000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:120056600-120058200	Enhancers	Colon Smooth Muscle	Colon

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