Variant report

Variant	rs66566266
Chromosome Location	chr5:80174195-80174196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80168752..80172903-chr5:80173933..80177155,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10036264	0.92[ASN][1000 genomes]
rs10039831	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051571	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055856	0.92[ASN][1000 genomes]
rs10079641	0.92[EUR][1000 genomes]
rs3776974	0.92[ASN][1000 genomes]
rs3797887	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6151725	0.92[ASN][1000 genomes]
rs6151767	0.84[EUR][1000 genomes]
rs6151871	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80091400-80181000	Weak transcription	Small Intestine	intestine
2	chr5:80141200-80178800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:80143000-80175400	Weak transcription	HMEC	breast
4	chr5:80145600-80175600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:80145600-80181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:80148600-80175600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:80149200-80176200	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:80149800-80180000	Weak transcription	Psoas Muscle	Psoas
9	chr5:80151600-80175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80152800-80179000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:80157600-80180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:80163000-80175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:80163000-80181400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80163200-80175600	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:80163200-80180000	Weak transcription	Fetal Kidney	kidney
16	chr5:80163200-80186600	Weak transcription	HSMMtube	muscle
17	chr5:80163200-80188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:80167200-80174200	Strong transcription	Adipose Nuclei	Adipose
19	chr5:80167200-80174200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr5:80167400-80174400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:80167800-80174200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:80167800-80177200	Weak transcription	NHLF	lung
23	chr5:80167800-80178200	Weak transcription	Placenta	Placenta
24	chr5:80167800-80180800	Weak transcription	K562	blood
25	chr5:80167800-80187200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:80168200-80175400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:80169000-80174200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:80169600-80190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:80170000-80174200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:80170000-80174200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:80170000-80175200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:80170400-80174200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr5:80170800-80174200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:80171000-80174200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:80171200-80183600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:80171200-80186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:80171400-80196400	Weak transcription	Hela-S3	cervix
38	chr5:80171600-80174400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:80171600-80177000	Weak transcription	Fetal Thymus	thymus
40	chr5:80171800-80186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:80172000-80180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:80172200-80186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:80172600-80174400	Strong transcription	Primary B cells from cord blood	blood
44	chr5:80172800-80174200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr5:80172800-80174200	Strong transcription	Brain Angular Gyrus	brain
46	chr5:80172800-80174200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:80173000-80174200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:80173000-80174200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:80173200-80174200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:80173200-80181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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