Variant report

Variant	rs498145
Chromosome Location	chr11:72931867-72931868
allele	A/G
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	POLR2A	chr11:72926198-72937963	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72931397..72935797-chr11:72938459..72941401,4	K562	blood:
2	chr11:72931565..72933300-chr11:73003865..73006749,2	MCF-7	breast:
3	chr11:72503784..72506379-chr11:72929957..72932387,2	MCF-7	breast:
4	chr11:72931797..72934101-chr11:73016797..73019533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215841	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000214530	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	1.00[EUR][1000 genomes]
rs498323	0.98[EUR][1000 genomes]
rs507126	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510921	0.95[EUR][1000 genomes]
rs557451	0.91[EUR][1000 genomes]
rs7934353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7948393	0.82[AMR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72929800-72932400	Enhancers	Spleen	Spleen
2	chr11:72930000-72932600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:72930000-72938400	Weak transcription	Gastric	stomach
4	chr11:72930000-72938400	Weak transcription	Pancreas	Pancrea
5	chr11:72930200-72932000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:72930200-72932600	Enhancers	NHEK	skin
7	chr11:72930200-72932800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:72930400-72932000	Enhancers	Left Ventricle	heart
9	chr11:72930400-72932600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:72930600-72932000	Bivalent Enhancer	Placenta	Placenta
11	chr11:72930600-72933600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:72930600-72938800	Weak transcription	A549	lung
13	chr11:72930600-72944200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:72930800-72932600	Weak transcription	Lung	lung
15	chr11:72930800-72932600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:72931000-72932400	Enhancers	Esophagus	oesophagus
17	chr11:72931000-72932800	Enhancers	HMEC	breast
18	chr11:72931000-72934200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:72931000-72938400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:72931200-72934600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:72931200-72935800	Enhancers	Right Ventricle	heart
22	chr11:72931200-72938600	Weak transcription	Colonic Mucosa	Colon
23	chr11:72931400-72932000	Flanking Active TSS	Psoas Muscle	Psoas
24	chr11:72931400-72935200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:72931400-72936000	Enhancers	Dnd41	blood
26	chr11:72931600-72932000	Bivalent Enhancer	HepG2	liver
27	chr11:72931600-72932200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
28	chr11:72931600-72932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:72931600-72932800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:72931600-72933000	Enhancers	Fetal Intestine Large	intestine
31	chr11:72931600-72934400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:72931800-72932000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr11:72931800-72932200	Weak transcription	Right Atrium	heart
34	chr11:72931800-72932600	Genic enhancers	Fetal Intestine Small	intestine
35	chr11:72931800-72932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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