Variant report

Variant	rs12803441
Chromosome Location	chr11:10473758-10473759
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	STAT3	chr11:10473708-10473827	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
2	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
3	chr11:10466561..10468211-chr11:10473032..10475120,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11042799	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042800	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042806	1.00[AMR][1000 genomes]
rs11042807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11518196	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11522665	0.84[EUR][1000 genomes]
rs12360830	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12363993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12789993	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12802491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34423417	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34796012	1.00[AFR][1000 genomes]
rs34827892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34947038	1.00[AFR][1000 genomes]
rs34972496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35027484	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35526717	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35548473	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61890321	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61890324	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61891364	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10471600-10474000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:10471800-10474400	Flanking Active TSS	NHEK	skin
3	chr11:10472600-10474200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:10472800-10474000	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr11:10472800-10474200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:10472800-10474400	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr11:10473000-10473800	Enhancers	Spleen	Spleen
8	chr11:10473000-10474400	Enhancers	NHDF-Ad	bronchial
9	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:10473200-10473800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:10473200-10473800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:10473200-10474000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:10473200-10474000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:10473200-10474000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:10473200-10474000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:10473200-10474000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:10473200-10474200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:10473200-10474200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:10473200-10474200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:10473200-10474200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:10473200-10474400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:10473200-10474400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:10473200-10474400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:10473200-10475000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:10473200-10475800	Weak transcription	Osteobl	bone
26	chr11:10473200-10476400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:10473200-10476800	Weak transcription	Gastric	stomach
28	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
29	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:10473200-10477200	Weak transcription	Liver	Liver
31	chr11:10473200-10478000	Enhancers	HMEC	breast
32	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
33	chr11:10473400-10473800	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:10473400-10473800	Enhancers	Fetal Thymus	thymus
35	chr11:10473400-10474000	Enhancers	Primary T cells from cord blood	blood
36	chr11:10473400-10474000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:10473400-10474000	Weak transcription	Stomach Mucosa	stomach
38	chr11:10473400-10474000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:10473400-10474200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:10473400-10474200	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:10473400-10475400	Weak transcription	NHLF	lung
42	chr11:10473400-10475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:10473400-10475800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:10473400-10475800	Weak transcription	Hela-S3	cervix
45	chr11:10473400-10476600	Weak transcription	Placenta	Placenta
46	chr11:10473400-10476600	Weak transcription	Dnd41	blood
47	chr11:10473600-10473800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:10473600-10473800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:10473600-10473800	Active TSS	Brain Anterior Caudate	brain
50	chr11:10473600-10473800	Active TSS	Esophagus	oesophagus

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