Variant report

Variant	rs11654993
Chromosome Location	chr17:66387180-66387181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66377922..66382043-chr17:66382390..66387412,6	MCF-7	breast:
2	chr17:66286590..66289281-chr17:66385656..66387350,2	MCF-7	breast:
3	chr17:66386456..66388200-chr17:66391393..66393608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108932	Chromatin interaction
ENSG00000141337	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10468443	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11650971	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11654682	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11654995	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655081	0.94[EUR][1000 genomes]
rs16972924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28483915	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28711365	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57451312	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57873715	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61502349	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6501421	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6501422	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6501423	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7208344	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7215499	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7220423	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7224186	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72841850	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841851	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841853	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72841855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8079443	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66354200-66390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:66369000-66390800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:66374800-66391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:66374800-66391000	Weak transcription	Esophagus	oesophagus
5	chr17:66378800-66389800	Enhancers	Liver	Liver
6	chr17:66380400-66390200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:66380400-66390400	Weak transcription	Thymus	Thymus
8	chr17:66380400-66391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:66380800-66387200	Enhancers	HepG2	liver
10	chr17:66380800-66393000	Weak transcription	Primary T cells from cord blood	blood
11	chr17:66381000-66392800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr17:66381000-66393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:66381000-66394800	Weak transcription	Primary B cells from cord blood	blood
14	chr17:66381000-66394800	Weak transcription	Fetal Kidney	kidney
15	chr17:66381400-66387200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:66381400-66390200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:66381400-66390400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr17:66381400-66391000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:66381600-66390800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:66382000-66391000	Weak transcription	Lung	lung
21	chr17:66382200-66387400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:66382800-66391200	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:66383000-66391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:66383000-66391000	Weak transcription	Aorta	Aorta
25	chr17:66383200-66387200	Weak transcription	NHLF	lung
26	chr17:66383200-66387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:66383400-66387200	Weak transcription	Osteobl	bone
28	chr17:66383600-66387400	Weak transcription	Fetal Muscle Leg	muscle
29	chr17:66383600-66387400	Weak transcription	Psoas Muscle	Psoas
30	chr17:66383600-66388200	Weak transcription	Right Ventricle	heart
31	chr17:66383600-66388400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr17:66383600-66395800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:66383800-66387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr17:66383800-66391200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:66384000-66390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:66384000-66394400	Weak transcription	Fetal Heart	heart
37	chr17:66384400-66387200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:66385400-66393000	Weak transcription	Hela-S3	cervix
39	chr17:66385600-66387400	Weak transcription	Pancreas	Pancrea
40	chr17:66385600-66390600	Weak transcription	Dnd41	blood
41	chr17:66385600-66391000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:66385800-66389200	Weak transcription	Fetal Thymus	thymus
43	chr17:66385800-66390600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:66386200-66387800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:66386400-66387600	Enhancers	NHDF-Ad	bronchial
46	chr17:66387000-66387600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links