Variant report

Variant	rs7112723
Chromosome Location	chr11:45354539-45354540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45273665..45274202-chr11:45354083..45354636,2	K562	blood:
2	chr11:45304830..45305456-chr11:45353640..45354631,2	K562	blood:
3	chr11:45354038..45357345-chr11:45359255..45361825,3	K562	blood:
4	chr11:45131918..45132817-chr11:45353622..45354653,9	K562	blood:
5	chr11:45204224..45207572-chr11:45353935..45355578,3	MCF-7	breast:
6	chr11:45132082..45133595-chr11:45353521..45354803,7	MCF-7	breast:
7	chr11:44957512..44958657-chr11:45353637..45354697,3	K562	blood:
8	chr11:45273694..45274393-chr11:45353843..45354665,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175274	Chromatin interaction
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10742748	0.83[EUR][1000 genomes]
rs10742749	0.83[EUR][1000 genomes]
rs10742750	0.85[ASN][1000 genomes]
rs10769138	0.83[EUR][1000 genomes]
rs10838446	0.83[EUR][1000 genomes]
rs11038390	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11530155	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2863181	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs34801223	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4755962	0.85[EUR][1000 genomes]
rs4755965	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4755966	0.85[EUR][1000 genomes]
rs4755967	0.81[EUR][1000 genomes]
rs4755969	0.86[EUR][1000 genomes]
rs4755970	0.86[EUR][1000 genomes]
rs4755975	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6416133	0.85[EUR][1000 genomes]
rs6485613	0.85[EUR][1000 genomes]
rs6485614	0.84[EUR][1000 genomes]
rs6485616	0.85[EUR][1000 genomes]
rs6485619	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485620	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7106802	0.86[EUR][1000 genomes]
rs7110287	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7112192	0.86[EUR][1000 genomes]
rs7124597	0.86[EUR][1000 genomes]
rs7478974	0.83[EUR][1000 genomes]
rs7479052	0.83[EUR][1000 genomes]
rs7480542	0.85[EUR][1000 genomes]
rs7482739	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7925771	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7946683	0.86[EUR][1000 genomes]
rs9667484	0.86[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45353400-45357800	Enhancers	Fetal Muscle Leg	muscle
2	chr11:45353600-45354600	Enhancers	Brain Germinal Matrix	brain
3	chr11:45353600-45354800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:45353600-45355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:45353800-45354600	Enhancers	Fetal Brain Female	brain
6	chr11:45353800-45354600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr11:45353800-45354600	Enhancers	NH-A	brain
8	chr11:45353800-45354600	Bivalent Enhancer	NHEK	skin
9	chr11:45353800-45355600	Enhancers	Fetal Heart	heart
10	chr11:45353800-45355600	Enhancers	HUVEC	blood vessel
11	chr11:45353800-45357000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:45354000-45354600	Enhancers	A549	lung
13	chr11:45354000-45355600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:45354200-45354600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:45354200-45354600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr11:45354200-45354600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:45354200-45354600	Enhancers	Adipose Nuclei	Adipose
18	chr11:45354200-45354600	Enhancers	Liver	Liver
19	chr11:45354200-45354600	Enhancers	Brain Angular Gyrus	brain
20	chr11:45354200-45354600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:45354200-45354600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:45354200-45354600	Enhancers	Colonic Mucosa	Colon
23	chr11:45354200-45354600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr11:45354200-45354600	Weak transcription	Fetal Intestine Small	intestine
25	chr11:45354200-45354600	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:45354200-45354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:45354200-45354800	Enhancers	Aorta	Aorta
28	chr11:45354200-45354800	Active TSS	Duodenum Mucosa	Duodenum
29	chr11:45354200-45354800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:45354200-45354800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:45354200-45355000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:45354200-45355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:45354200-45355200	Flanking Active TSS	Osteobl	bone
34	chr11:45354200-45355600	Enhancers	Fetal Stomach	stomach
35	chr11:45354200-45355600	Enhancers	Lung	lung
36	chr11:45354400-45354600	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:45354400-45354600	Enhancers	Fetal Kidney	kidney
38	chr11:45354400-45354600	Flanking Active TSS	NHLF	lung
39	chr11:45354400-45354800	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr11:45354400-45354800	Flanking Active TSS	Fetal Brain Male	brain
41	chr11:45354400-45354800	Flanking Active TSS	Fetal Lung	lung
42	chr11:45354400-45354800	Flanking Active TSS	Ovary	ovary
43	chr11:45354400-45355000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:45354400-45355200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr11:45354400-45355200	Weak transcription	Pancreas	Pancrea
46	chr11:45354400-45355200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr11:45354400-45355400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:45354400-45355400	Active TSS	Right Atrium	heart
49	chr11:45354400-45355400	Active TSS	Right Ventricle	heart
50	chr11:45354400-45359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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