Variant report

Variant	rs557451
Chromosome Location	chr11:72927119-72927120
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	POLR2A	chr11:72926165-72938018	HL-60	blood:	n/a	n/a
2	REST	chr11:72926758-72927423	HL-60	blood:	n/a	chr11:72927123-72927131
3	POLR2A	chr11:72926306-72930248	NB4	blood:	n/a	n/a
4	POLR2A	chr11:72926198-72937963	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72925831..72928740-chr11:73018599..73020225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215841	TF binding region
P2RY2	TF binding region
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs480305	0.91[EUR][1000 genomes]
rs498145	0.91[EUR][1000 genomes]
rs498323	0.85[CEU][hapmap];1.00[CHD][hapmap];0.89[EUR][1000 genomes]
rs507126	0.91[EUR][1000 genomes]
rs510921	0.87[EUR][1000 genomes]
rs7934353	0.89[EUR][1000 genomes]
rs7948393	0.85[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72913000-72928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:72916800-72928400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:72918800-72928200	Weak transcription	A549	lung
4	chr11:72922000-72928000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:72923800-72927800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:72924000-72928200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:72924000-72928400	Weak transcription	K562	blood
8	chr11:72924200-72928000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:72924400-72927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:72924600-72928800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:72925000-72928200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:72925000-72928400	Weak transcription	Fetal Lung	lung
13	chr11:72925200-72927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:72925200-72927800	Enhancers	Primary B cells from cord blood	blood
15	chr11:72925200-72928200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:72925400-72928400	Enhancers	Esophagus	oesophagus
17	chr11:72925400-72929200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:72925600-72927800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:72925600-72928000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:72925600-72928800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:72925800-72927800	Weak transcription	Right Ventricle	heart
22	chr11:72925800-72928000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:72925800-72928000	Weak transcription	Left Ventricle	heart
24	chr11:72925800-72928000	Weak transcription	Right Atrium	heart
25	chr11:72925800-72928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72925800-72928200	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:72925800-72928200	Weak transcription	HMEC	breast
28	chr11:72925800-72928400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:72925800-72928400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:72925800-72928600	Weak transcription	NHEK	skin
31	chr11:72926200-72928200	Enhancers	Psoas Muscle	Psoas
32	chr11:72926600-72927600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:72926600-72927800	Weak transcription	Pancreas	Pancrea
34	chr11:72926600-72928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:72926800-72927200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:72926800-72927400	Weak transcription	Spleen	Spleen
37	chr11:72926800-72928800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:72927000-72928200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:72927000-72928800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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