Variant report

Variant	rs544458
Chromosome Location	chr11:85778924-85778925
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	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
2	chr11:85777862..85782517-chr11:85902953..85907117,7	K562	blood:
3	chr11:85777613..85779619-chr11:85854927..85856671,2	K562	blood:
4	chr11:85778609..85781292-chr11:85954393..85956232,2	K562	blood:
5	chr11:85778910..85781849-chr11:85954546..85957728,3	K562	blood:
6	chr11:85778125..85779781-chr11:85819659..85821681,2	K562	blood:
7	chr11:85776467..85780584-chr11:85902948..85906650,5	MCF-7	breast:
8	chr11:85520681..85523600-chr11:85778386..85780657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000254699	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000254502	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11234493	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1237230	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1513390	0.99[ASN][1000 genomes]
rs1996108	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2077815	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2155051	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2458493	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2458496	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2458499	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2458500	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508688	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2509608	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509609	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3016327	0.88[AMR][1000 genomes]
rs472618	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs488134	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs489486	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs494369	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs497711	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504129	0.87[EUR][1000 genomes]
rs527162	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs528109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs535590	0.85[AFR][1000 genomes]
rs541458	0.94[AFR][1000 genomes]
rs542167	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544848	0.92[ASN][1000 genomes]
rs547767	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs548121	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556562	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs565719	0.87[AFR][1000 genomes]
rs583126	0.95[ASN][1000 genomes]
rs585820	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs588076	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs592297	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs592314	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs595972	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs597446	0.96[ASN][1000 genomes]
rs600258	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs600743	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs601185	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs603615	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs616555	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs617836	0.84[ASN][1000 genomes]
rs618001	0.90[ASN][1000 genomes]
rs618629	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs618679	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs622220	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs626542	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs627818	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs634719	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635168	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs637304	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs648270	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs654194	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs655641	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs659801	0.80[EUR][1000 genomes]
rs664050	0.80[ASN][1000 genomes]
rs669556	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670606	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs680119	0.81[ASN][1000 genomes]
rs682366	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs75751	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7951988	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9804630	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
2	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
4	chr11:85775000-85780600	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:85775200-85779200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:85775600-85780800	Active TSS	Ovary	ovary
7	chr11:85775600-85781000	Active TSS	Hela-S3	cervix
8	chr11:85775800-85780600	Active TSS	HSMMtube	muscle
9	chr11:85776000-85781200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:85776200-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:85776200-85780600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:85776200-85780600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:85776200-85780800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:85776200-85780800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:85776400-85779800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:85776400-85780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:85776400-85780600	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:85776400-85780600	Active TSS	HMEC	breast
19	chr11:85776400-85780800	Active TSS	Right Atrium	heart
20	chr11:85776400-85781000	Active TSS	HSMM	muscle
21	chr11:85776400-85781000	Active TSS	NHLF	lung
22	chr11:85776400-85781200	Active TSS	Psoas Muscle	Psoas
23	chr11:85776600-85779000	Flanking Active TSS	Dnd41	blood
24	chr11:85776600-85779200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:85776600-85780400	Active TSS	Primary T cells fromperipheralblood	blood
26	chr11:85776600-85780400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:85776600-85780400	Active TSS	Fetal Muscle Leg	muscle
28	chr11:85776600-85780800	Active TSS	Aorta	Aorta
29	chr11:85776600-85781000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:85776800-85779200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:85776800-85780600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:85776800-85780600	Active TSS	Brain Substantia Nigra	brain
33	chr11:85776800-85780600	Active TSS	Thymus	Thymus
34	chr11:85776800-85780600	Active TSS	NHEK	skin
35	chr11:85776800-85780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:85776800-85780800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:85776800-85780800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:85776800-85781000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:85777000-85779400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:85777000-85780400	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr11:85777000-85780600	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:85777000-85780600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:85777000-85780600	Active TSS	Fetal Intestine Large	intestine
44	chr11:85777000-85780600	Active TSS	Fetal Intestine Small	intestine
45	chr11:85777000-85780600	Active TSS	Placenta	Placenta
46	chr11:85777000-85780600	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:85777000-85780600	Active TSS	NH-A	brain
48	chr11:85777000-85780600	Active TSS	NHDF-Ad	bronchial
49	chr11:85777000-85780800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:85777000-85781000	Active TSS	Pancreatic Islets	Pancreatic Islet

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