Variant report

Variant	rs73417059
Chromosome Location	chr11:16036072-16036073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16033382..16036196-chr11:16045412..16048891,3	K562	blood:
2	chr11:16035545..16037231-chr11:16626707..16629465,2	K562	blood:
3	chr11:16032786..16036451-chr11:16039084..16041674,3	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10500821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10500822	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12574859	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574862	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575006	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12575614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575858	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576586	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576597	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12577378	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12577495	0.83[ASN][1000 genomes]
rs16932405	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16932409	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16932414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16932416	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16932445	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932455	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932469	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4254041	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4279976	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466793	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4478958	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4486592	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55730626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58002079	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58520714	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60718933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7114427	0.86[ASN][1000 genomes]
rs7129224	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73417055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924380	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7938500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7938840	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942659	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7947008	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947337	0.83[ASN][1000 genomes]
rs7947979	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832074	chr11:15927105-16100772	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1045933	chr11:16023805-16067955	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16023800-16050400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:16024400-16067200	Weak transcription	Liver	Liver
3	chr11:16024800-16088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:16028000-16036800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:16033000-16038200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:16033200-16038200	Enhancers	Fetal Muscle Leg	muscle
7	chr11:16034000-16037800	Strong transcription	Fetal Intestine Large	intestine
8	chr11:16034200-16038000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:16034200-16040600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:16034200-16079200	Weak transcription	Pancreas	Pancrea
11	chr11:16034800-16036200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:16034800-16037600	Enhancers	Psoas Muscle	Psoas
13	chr11:16034800-16042800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:16035000-16057400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:16035400-16036600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:16035600-16036600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:16035600-16037000	Weak transcription	Fetal Lung	lung
18	chr11:16035800-16037200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:16035800-16037200	Weak transcription	Brain Germinal Matrix	brain
20	chr11:16036000-16038000	Weak transcription	Fetal Heart	heart
21	chr11:16036000-16038800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:16036000-16040400	Weak transcription	Fetal Kidney	kidney
23	chr11:16036000-16041600	Weak transcription	Left Ventricle	heart
24	chr11:16036000-16042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:16036000-16073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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