Variant report

Variant	rs57970111
Chromosome Location	chr17:66488213-66488214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66480053..66482691-chr17:66486689..66489527,2	K562	blood:
2	chr17:66486129..66489864-chr17:66505965..66510014,4	MCF-7	breast:
3	chr17:66479120..66480633-chr17:66487594..66490135,2	MCF-7	breast:
4	chr17:66486234..66488484-chr17:66491556..66493277,2	MCF-7	breast:
5	chr17:66482801..66484982-chr17:66486873..66489419,2	K562	blood:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11870630	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16972981	0.89[EUR][1000 genomes]
rs16973011	0.83[EUR][1000 genomes]
rs2041980	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55706908	0.89[EUR][1000 genomes]
rs56133934	0.89[EUR][1000 genomes]
rs56163561	0.89[EUR][1000 genomes]
rs57006335	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57713835	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59223374	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60531444	0.89[EUR][1000 genomes]
rs62085940	0.90[ASN][1000 genomes]
rs7207968	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214330	0.88[ASN][1000 genomes]
rs72847769	0.89[EUR][1000 genomes]
rs72847771	0.89[EUR][1000 genomes]
rs72847774	0.89[EUR][1000 genomes]
rs72847775	0.89[EUR][1000 genomes]
rs72847778	0.89[EUR][1000 genomes]
rs8905	0.83[EUR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66480800-66490600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:66486200-66488400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr17:66486200-66488600	Enhancers	GM12878-XiMat	blood
4	chr17:66486200-66488800	Enhancers	Primary B cells from cord blood	blood
5	chr17:66486200-66488800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:66486200-66488800	Enhancers	Lung	lung
7	chr17:66486400-66488600	Enhancers	Spleen	Spleen
8	chr17:66486400-66488800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr17:66486400-66488800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:66486800-66488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:66487000-66488400	Enhancers	Ovary	ovary
12	chr17:66487000-66488400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:66487000-66488400	Enhancers	Right Atrium	heart
14	chr17:66487000-66488600	Enhancers	Brain Substantia Nigra	brain
15	chr17:66487000-66488800	Enhancers	Placenta	Placenta
16	chr17:66487000-66489600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr17:66487200-66493800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:66487400-66489000	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:66487600-66488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:66487600-66488400	Enhancers	Fetal Lung	lung
21	chr17:66487600-66488400	Enhancers	Fetal Stomach	stomach
22	chr17:66487600-66488400	Enhancers	Gastric	stomach
23	chr17:66487600-66488400	Enhancers	Right Ventricle	heart
24	chr17:66487600-66488800	Enhancers	Fetal Heart	heart
25	chr17:66487600-66489400	Enhancers	Left Ventricle	heart
26	chr17:66487800-66488400	Enhancers	Liver	Liver
27	chr17:66487800-66488600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:66487800-66488600	Enhancers	Fetal Thymus	thymus
29	chr17:66487800-66488600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:66488000-66488400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:66488000-66488400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:66488000-66488400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr17:66488000-66488400	Flanking Active TSS	Esophagus	oesophagus
34	chr17:66488000-66488600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr17:66488000-66488600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr17:66488000-66488600	Flanking Active TSS	Pancreas	Pancrea
37	chr17:66488000-66488600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:66488000-66488600	Active TSS	Rectal Smooth Muscle	rectum
39	chr17:66488000-66488600	Bivalent Enhancer	HepG2	liver
40	chr17:66488000-66489000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr17:66488200-66488400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:66488200-66488400	Active TSS	NHEK	skin
43	chr17:66488200-66488600	Enhancers	Brain Hippocampus Middle	brain
44	chr17:66488200-66489400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:66488200-66493400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr17:66488200-66493800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:66488200-66494600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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