Variant report

Variant	rs59127043
Chromosome Location	chr11:73031413-73031414
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73029929..73032327-chr11:73087348..73089078,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1107037	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	1.00[ASN][1000 genomes]
rs12290082	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291164	0.83[AFR][1000 genomes]
rs12293779	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	1.00[ASN][1000 genomes]
rs1938776	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	1.00[ASN][1000 genomes]
rs55851019	0.81[AFR][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	1.00[ASN][1000 genomes]
rs55980420	1.00[ASN][1000 genomes]
rs56012762	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	1.00[ASN][1000 genomes]
rs56184513	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58053874	0.81[AFR][1000 genomes]
rs61749197	1.00[ASN][1000 genomes]
rs73542448	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	1.00[ASN][1000 genomes]
rs7941389	1.00[ASN][1000 genomes]
rs874456	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73024400-73037000	Enhancers	Placenta	Placenta
2	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:73025400-73037200	Enhancers	Left Ventricle	heart
4	chr11:73025600-73033000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:73025600-73033400	Weak transcription	Liver	Liver
6	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:73026000-73031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73026000-73032400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73026000-73032800	Weak transcription	A549	lung
10	chr11:73026000-73033000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:73026000-73034400	Weak transcription	Hela-S3	cervix
12	chr11:73026200-73031800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:73026200-73031800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:73026200-73032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:73026200-73032000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:73026400-73031600	Enhancers	Brain Hippocampus Middle	brain
17	chr11:73026400-73031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:73026400-73036800	Enhancers	Fetal Heart	heart
19	chr11:73026600-73032000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:73026600-73032000	Weak transcription	Small Intestine	intestine
21	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
22	chr11:73026800-73032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:73027400-73031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:73027400-73032200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73027600-73033600	Genic enhancers	HepG2	liver
26	chr11:73027800-73031600	Genic enhancers	NHLF	lung
27	chr11:73027800-73031800	Weak transcription	HSMMtube	muscle
28	chr11:73027800-73032400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:73027800-73033600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:73028000-73032200	Weak transcription	Fetal Kidney	kidney
31	chr11:73028400-73031800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:73028400-73032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:73028400-73032400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
35	chr11:73028600-73037000	Enhancers	Right Ventricle	heart
36	chr11:73029000-73031600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:73029000-73031800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:73029000-73032400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:73029200-73031800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:73029200-73032000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:73029200-73032200	Weak transcription	Stomach Mucosa	stomach
42	chr11:73029200-73032800	Weak transcription	Brain Germinal Matrix	brain
43	chr11:73029400-73032000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:73029600-73031800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73029600-73032000	Weak transcription	Aorta	Aorta
46	chr11:73029600-73032800	Weak transcription	Fetal Brain Male	brain
47	chr11:73029800-73032000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:73029800-73032000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:73029800-73032000	Weak transcription	Pancreas	Pancrea
50	chr11:73029800-73033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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