Variant report

Variant	rs72833470
Chromosome Location	chr17:45950721-45950722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45922247..45925799-chr17:45947598..45950911,3	K562	blood:
2	chr17:45950457..45952482-chr17:45959947..45962257,2	K562	blood:
3	chr17:45922247..45924447-chr17:45948700..45950911,2	K562	blood:
4	chr17:45949402..45954335-chr17:45955513..45959303,4	K562	blood:
5	chr17:45928067..45929826-chr17:45950552..45952280,2	MCF-7	breast:
6	chr17:45926872..45930538-chr17:45948934..45951348,3	MCF-7	breast:
7	chr14:103354197..103354878-chr17:45950280..45950995,2	MCF-7	breast:
8	chr17:45949537..45952014-chr17:45960659..45962461,3	MCF-7	breast:
9	chr17:45945306..45947161-chr17:45950628..45952334,2	K562	blood:
10	chr17:45909693..45911747-chr17:45950278..45952452,2	K562	blood:
11	chr17:45908736..45910591-chr17:45948228..45950847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141294	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4299189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61463979	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72833466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72833479	0.81[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45948800-45951200	Bivalent Enhancer	Fetal Thymus	thymus
2	chr17:45949400-45951000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:45949400-45951000	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr17:45949400-45953200	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:45949600-45950800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr17:45949600-45950800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr17:45949600-45951000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:45949600-45952000	Enhancers	K562	blood
9	chr17:45949800-45950800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45949800-45951000	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr17:45949800-45951200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:45950000-45950800	Enhancers	HSMM	muscle
13	chr17:45950000-45950800	Bivalent Enhancer	NHEK	skin
14	chr17:45950000-45951000	Bivalent Enhancer	NH-A	brain
15	chr17:45950000-45951200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr17:45950000-45951200	Bivalent Enhancer	GM12878-XiMat	blood
17	chr17:45950000-45951400	Bivalent Enhancer	Fetal Lung	lung
18	chr17:45950000-45954600	Weak transcription	Lung	lung
19	chr17:45950200-45950800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr17:45950200-45950800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr17:45950200-45950800	Bivalent Enhancer	Osteobl	bone
22	chr17:45950200-45951000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr17:45950200-45951000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:45950200-45951000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:45950200-45951000	Weak transcription	Spleen	Spleen
26	chr17:45950200-45951400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:45950400-45951000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:45950400-45951000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:45950400-45951000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr17:45950400-45951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:45950400-45951800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:45950400-45953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:45950600-45950800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr17:45950600-45950800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr17:45950600-45950800	Bivalent Enhancer	Small Intestine	intestine
37	chr17:45950600-45951000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr17:45950600-45951000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr17:45950600-45951200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:45950600-45951200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:45950600-45951200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:45950600-45951400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr17:45950600-45952400	Weak transcription	HMEC	breast
44	chr17:45950600-45954000	Enhancers	Placenta	Placenta
45	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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