Variant report

Variant	rs55931228
Chromosome Location	chr11:10481296-10481297
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	RUNX3	chr11:10480297-10481342	GM12878	blood:	n/a	n/a
2	SPI1	chr11:10480399-10481399	HL-60	blood:	n/a	chr11:10480649-10480662
3	CTCF	chr11:10481200-10481350	HL-60	blood:	n/a	n/a
4	RELA	chr11:10480428-10481364	GM15510	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
5	WRNIP1	chr11:10480413-10481402	GM12878	blood:	n/a	n/a
6	REST	chr11:10480383-10481558	HL-60	blood:	n/a	chr11:10481083-10481092
7	RELA	chr11:10480381-10481323	GM19099	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
8	RELA	chr11:10480350-10481357	GM12891	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638
9	REST	chr11:10480724-10481354	HL-60	blood:	n/a	chr11:10481083-10481092
10	POLR2A	chr11:10480332-10481301	GM12892	blood:	n/a	n/a
11	RUNX3	chr11:10480380-10481324	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:10481172-10481354	GM12878	blood:	n/a	n/a
13	REST	chr11:10480800-10481334	GM12878	blood:	n/a	chr11:10481083-10481092
14	RELA	chr11:10480413-10481399	GM10847	blood:	n/a	chr11:10480629-10480638 chr11:10480629-10480638

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10477189..10479136-chr11:10480585..10482380,2	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10770118	0.94[EUR][1000 genomes]
rs10770120	0.91[EUR][1000 genomes]
rs28403593	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910139	0.84[ASN][1000 genomes]
rs55634501	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638917	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57517348	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59344411	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59602345	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60628971	0.81[AMR][1000 genomes]
rs61891367	0.81[AMR][1000 genomes]
rs61891375	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891379	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891381	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61891382	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72856184	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72857462	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs922360	0.92[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:10476400-10481400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:10476600-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:10476800-10482600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:10477000-10481400	Flanking Active TSS	Dnd41	blood
7	chr11:10477000-10481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:10477200-10481400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:10477800-10489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:10478000-10487400	Weak transcription	HMEC	breast
12	chr11:10478200-10482600	Weak transcription	Stomach Mucosa	stomach
13	chr11:10478200-10482600	Weak transcription	HSMMtube	muscle
14	chr11:10478200-10483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:10478200-10485800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:10478400-10482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:10478400-10483800	Weak transcription	Gastric	stomach
18	chr11:10478400-10484600	Weak transcription	Liver	Liver
19	chr11:10478400-10484800	Weak transcription	Osteobl	bone
20	chr11:10478400-10486000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:10478400-10487200	Weak transcription	Fetal Intestine Large	intestine
22	chr11:10478400-10487400	Weak transcription	Right Ventricle	heart
23	chr11:10478400-10489000	Weak transcription	A549	lung
24	chr11:10478400-10500000	Weak transcription	Fetal Intestine Small	intestine
25	chr11:10478400-10502800	Weak transcription	Pancreas	Pancrea
26	chr11:10478600-10481600	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:10478600-10483400	Weak transcription	Colonic Mucosa	Colon
28	chr11:10478800-10482800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:10478800-10483000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:10478800-10493600	Weak transcription	HSMM	muscle
31	chr11:10478800-10511600	Weak transcription	Psoas Muscle	Psoas
32	chr11:10479000-10502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:10479200-10481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:10479200-10481400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:10479800-10482800	Enhancers	Brain Substantia Nigra	brain
36	chr11:10479800-10483200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:10479800-10483600	Weak transcription	Esophagus	oesophagus
38	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:10480000-10481400	Flanking Active TSS	K562	blood
40	chr11:10480000-10481400	Enhancers	NHEK	skin
41	chr11:10480000-10481600	Flanking Active TSS	GM12878-XiMat	blood
42	chr11:10480200-10481400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:10480200-10481400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr11:10480200-10481400	Enhancers	Brain Anterior Caudate	brain
45	chr11:10480200-10481400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:10480200-10481400	Enhancers	Placenta	Placenta
47	chr11:10480200-10481600	Enhancers	Brain Hippocampus Middle	brain
48	chr11:10480400-10481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:10480400-10481400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:10480400-10481400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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