Variant report

Variant	rs1107038
Chromosome Location	chr11:73025971-73025972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73024782..73027312-chr11:73031745..73033337,2	K562	blood:
2	chr11:73023858..73027999-chr11:73087402..73090750,4	MCF-7	breast:
3	chr11:73025076..73027780-chr11:73032690..73035517,2	K562	blood:
4	chr11:73022132..73024730-chr11:73025470..73028297,3	K562	blood:
5	chr11:73017816..73020717-chr11:73023250..73027680,5	K562	blood:
6	chr11:73025640..73027752-chr11:73039353..73043399,3	K562	blood:
7	chr11:73024334..73026078-chr11:73086784..73088871,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1107037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273234	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290082	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291164	0.81[AFR][1000 genomes]
rs12293779	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.91[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59127043	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749197	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.80[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73018800-73026200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:73020600-73026400	Flanking Active TSS	HepG2	liver
3	chr11:73020600-73026600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:73020800-73028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:73021000-73026200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
6	chr11:73021000-73027200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:73022200-73026000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73022200-73026400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:73022200-73026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:73022400-73026000	Flanking Active TSS	NH-A	brain
11	chr11:73022600-73026800	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr11:73022800-73026600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:73023000-73026000	Enhancers	Pancreas	Pancrea
14	chr11:73023000-73027000	Flanking Active TSS	Osteobl	bone
15	chr11:73023000-73029200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:73023000-73029600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:73023200-73026000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:73023400-73026800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:73023600-73026400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr11:73024000-73029400	Enhancers	Brain Angular Gyrus	brain
21	chr11:73024000-73030000	Enhancers	Lung	lung
22	chr11:73024200-73026000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:73024200-73026000	Enhancers	Stomach Mucosa	stomach
24	chr11:73024200-73026000	Enhancers	A549	lung
25	chr11:73024200-73026200	Transcr. at gene 5' and 3'	NHLF	lung
26	chr11:73024200-73026600	Enhancers	HMEC	breast
27	chr11:73024400-73026200	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:73024400-73026600	Enhancers	Colonic Mucosa	Colon
29	chr11:73024400-73027400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73024400-73029200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:73024400-73029600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:73024400-73037000	Enhancers	Placenta	Placenta
33	chr11:73024600-73026000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:73024600-73026000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:73024600-73026000	Weak transcription	Aorta	Aorta
36	chr11:73024600-73026600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:73024600-73026600	Transcr. at gene 5' and 3'	HSMM	muscle
38	chr11:73024600-73026800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:73024600-73026800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:73024600-73027000	Flanking Active TSS	Right Ventricle	heart
41	chr11:73024600-73029200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:73024800-73026000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:73024800-73026000	Enhancers	Hela-S3	cervix
44	chr11:73024800-73027200	Enhancers	Esophagus	oesophagus
45	chr11:73024800-73028400	Enhancers	Spleen	Spleen
46	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
47	chr11:73025000-73026000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr11:73025000-73026200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr11:73025000-73026200	Weak transcription	Small Intestine	intestine
50	chr11:73025000-73026800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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