Variant report

Variant	rs55854855
Chromosome Location	chr11:101789375-101789376
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	POLR2A	chr11:101789340-101789583	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101785271..101788108-chr11:101788496..101790175,2	MCF-7	breast:

Variant related genes	Relation type
ANGPTL5	TF binding region
ENSG00000110318	Chromatin interaction
ENSG00000187151	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57104749	1.00[AMR][1000 genomes]
rs57569155	0.81[AFR][1000 genomes]
rs58379466	1.00[AMR][1000 genomes]
rs61414150	1.00[AMR][1000 genomes]
rs61534871	1.00[AMR][1000 genomes]
rs61743062	1.00[AMR][1000 genomes]
rs7944180	1.00[AMR][1000 genomes]
rs7951294	1.00[AMR][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	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101786200-101792000	Weak transcription	Small Intestine	intestine
2	chr11:101786200-101802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:101786400-101790200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:101787000-101801200	Weak transcription	Fetal Stomach	stomach
5	chr11:101787200-101791800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:101787200-101800200	Weak transcription	Fetal Lung	lung
7	chr11:101787200-101802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:101787200-101820200	Weak transcription	Brain Substantia Nigra	brain
9	chr11:101787400-101798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:101787400-101799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:101787400-101800200	Weak transcription	Ovary	ovary
12	chr11:101787400-101800600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:101787400-101802600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:101787400-101815600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:101787400-101818800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:101787400-101820400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:101787400-101827800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:101787400-101839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:101787400-101861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:101787400-101866000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:101787600-101791400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:101787600-101809200	Weak transcription	A549	lung
23	chr11:101788200-101800000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:101788200-101800000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:101788200-101837800	Weak transcription	HUVEC	blood vessel
26	chr11:101788600-101789600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:101788600-101793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:101788600-101800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:101789000-101800200	Weak transcription	Aorta	Aorta
30	chr11:101789000-101800200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:101789000-101815200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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