Variant report

Variant	rs10838451
Chromosome Location	chr11:45354661-45354662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45354038..45357345-chr11:45359255..45361825,3	K562	blood:
2	chr11:45204224..45207572-chr11:45353935..45355578,3	MCF-7	breast:
3	chr11:45132082..45133595-chr11:45353521..45354803,7	MCF-7	breast:
4	chr11:44957512..44958657-chr11:45353637..45354697,3	K562	blood:
5	chr11:45273694..45274393-chr11:45353843..45354665,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction
ENSG00000175274	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838445	0.99[EUR][1000 genomes]
rs4755320	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4755321	0.87[EUR][1000 genomes]
rs4755977	0.86[EUR][1000 genomes]
rs61882561	0.87[EUR][1000 genomes]
rs61882562	0.87[EUR][1000 genomes]
rs61882563	0.87[EUR][1000 genomes]
rs61882564	0.87[EUR][1000 genomes]
rs61882566	0.85[EUR][1000 genomes]
rs61882568	0.82[EUR][1000 genomes]
rs7484258	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7943277	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs7943376	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs7952613	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45353400-45357800	Enhancers	Fetal Muscle Leg	muscle
2	chr11:45353600-45354800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:45353600-45355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:45353800-45355600	Enhancers	Fetal Heart	heart
5	chr11:45353800-45355600	Enhancers	HUVEC	blood vessel
6	chr11:45353800-45357000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:45354000-45355600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:45354200-45354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:45354200-45354800	Enhancers	Aorta	Aorta
10	chr11:45354200-45354800	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:45354200-45354800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr11:45354200-45354800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr11:45354200-45355000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:45354200-45355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:45354200-45355200	Flanking Active TSS	Osteobl	bone
16	chr11:45354200-45355600	Enhancers	Fetal Stomach	stomach
17	chr11:45354200-45355600	Enhancers	Lung	lung
18	chr11:45354400-45354800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr11:45354400-45354800	Flanking Active TSS	Fetal Brain Male	brain
20	chr11:45354400-45354800	Flanking Active TSS	Fetal Lung	lung
21	chr11:45354400-45354800	Flanking Active TSS	Ovary	ovary
22	chr11:45354400-45355000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:45354400-45355200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:45354400-45355200	Weak transcription	Pancreas	Pancrea
25	chr11:45354400-45355200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr11:45354400-45355400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:45354400-45355400	Active TSS	Right Atrium	heart
28	chr11:45354400-45355400	Active TSS	Right Ventricle	heart
29	chr11:45354400-45359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:45354600-45354800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:45354600-45354800	Flanking Active TSS	Fetal Brain Female	brain
32	chr11:45354600-45354800	Flanking Active TSS	Fetal Kidney	kidney
33	chr11:45354600-45354800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr11:45354600-45355000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:45354600-45355000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:45354600-45355200	Active TSS	Fetal Intestine Small	intestine
37	chr11:45354600-45355400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:45354600-45355400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:45354600-45355400	Active TSS	Left Ventricle	heart
40	chr11:45354600-45355400	Active TSS	NH-A	brain
41	chr11:45354600-45355400	Active TSS	NHLF	lung

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