Variant report

Variant	rs507126
Chromosome Location	chr11:72930617-72930618
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	CTCF	chr11:72928925-72930692	A549	lung:	n/a	n/a
3	POLR2A	chr11:72926198-72937963	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72853154..72855007-chr11:72929139..72931513,2	MCF-7	breast:
2	chr11:72493156..72495189-chr11:72928478..72930668,3	MCF-7	breast:
3	chr11:72503784..72506379-chr11:72929957..72932387,2	MCF-7	breast:
4	chr11:72525940..72528822-chr11:72928585..72931110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215841	TF binding region
ENSG00000168010	Chromatin interaction
ENSG00000137478	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000186635	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]
rs498145	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs498323	0.98[EUR][1000 genomes]
rs510921	0.95[EUR][1000 genomes]
rs557451	0.91[EUR][1000 genomes]
rs7934353	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7948393	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72929400-72930800	Active TSS	Right Ventricle	heart
2	chr11:72929600-72930800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:72929600-72931600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:72929800-72932400	Enhancers	Spleen	Spleen
5	chr11:72930000-72930800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:72930000-72930800	Enhancers	Lung	lung
7	chr11:72930000-72930800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:72930000-72931000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr11:72930000-72932600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:72930000-72938400	Weak transcription	Gastric	stomach
11	chr11:72930000-72938400	Weak transcription	Pancreas	Pancrea
12	chr11:72930200-72930800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:72930200-72931200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:72930200-72931400	Enhancers	Liver	Liver
15	chr11:72930200-72932000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:72930200-72932600	Enhancers	NHEK	skin
17	chr11:72930200-72932800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:72930400-72930800	Active TSS	Colonic Mucosa	Colon
19	chr11:72930400-72931000	Flanking Active TSS	Esophagus	oesophagus
20	chr11:72930400-72931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:72930400-72932000	Enhancers	Left Ventricle	heart
22	chr11:72930400-72932600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:72930600-72930800	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:72930600-72930800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:72930600-72931000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72930600-72931000	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr11:72930600-72931000	Flanking Active TSS	HMEC	breast
28	chr11:72930600-72931200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr11:72930600-72931200	Flanking Active TSS	Psoas Muscle	Psoas
30	chr11:72930600-72931600	Weak transcription	Right Atrium	heart
31	chr11:72930600-72932000	Bivalent Enhancer	Placenta	Placenta
32	chr11:72930600-72933600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:72930600-72938800	Weak transcription	A549	lung
34	chr11:72930600-72944200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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