Variant report

Variant	rs9944405
Chromosome Location	chr17:45953033-45953034
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45952271..45953858-chr17:45960670..45962936,2	MCF-7	breast:
2	chr17:45934921..45937833-chr17:45952289..45955225,2	MCF-7	breast:
3	chr17:45949402..45954335-chr17:45955513..45959303,4	K562	blood:
4	chr17:45936516..45939005-chr17:45951741..45953947,2	MCF-7	breast:
5	chr17:45927189..45930455-chr17:45951774..45954492,3	MCF-7	breast:
6	chr17:45952890..45955536-chr17:45970845..45973792,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1133221	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12232488	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12453773	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16949270	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16949296	0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs16949427	0.82[CHB][hapmap]
rs16949651	0.82[CHB][hapmap]
rs1986694	0.82[CHB][hapmap]
rs2240119	0.83[GIH][hapmap]
rs2285860	0.83[GIH][hapmap]
rs2525105	0.83[GIH][hapmap]
rs3764393	0.97[EUR][1000 genomes]
rs4450442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4614773	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56006220	0.98[EUR][1000 genomes]
rs56124407	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56218899	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58695897	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61702159	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7213084	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7214154	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217147	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219107	0.95[ASN][1000 genomes]
rs757353	0.83[GIH][hapmap]
rs8082055	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45949400-45953200	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:45950000-45954600	Weak transcription	Lung	lung
3	chr17:45950400-45953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:45950600-45954000	Enhancers	Placenta	Placenta
6	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45950800-45955200	Weak transcription	HSMM	muscle
8	chr17:45951000-45953400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr17:45951000-45955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:45951200-45953400	Enhancers	Fetal Thymus	thymus
11	chr17:45951600-45953400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr17:45951600-45953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:45951800-45953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:45951800-45953200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr17:45951800-45953600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr17:45952000-45953200	Enhancers	HSMMtube	muscle
17	chr17:45952000-45953400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:45952000-45953400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr17:45952000-45953400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:45952200-45953200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr17:45952200-45953200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr17:45952200-45953200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:45952200-45953400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45952200-45953400	Enhancers	Fetal Intestine Large	intestine
25	chr17:45952400-45953200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr17:45952400-45953200	Enhancers	Osteobl	bone
27	chr17:45952400-45953800	Enhancers	Adipose Nuclei	Adipose
28	chr17:45952600-45954800	Weak transcription	Fetal Lung	lung
29	chr17:45952600-45955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:45952800-45953400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:45952800-45953400	Enhancers	K562	blood
32	chr17:45952800-45953600	Enhancers	Liver	Liver
33	chr17:45953000-45953200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
34	chr17:45953000-45953200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:45953000-45953200	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr17:45953000-45953200	Flanking Active TSS	Fetal Kidney	kidney
37	chr17:45953000-45953200	Bivalent Enhancer	NHLF	lung
38	chr17:45953000-45953400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:45953000-45953400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:45953000-45953600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:45953000-45954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:45953000-45955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:45953000-45955800	Weak transcription	HMEC	breast
44	chr17:45953000-45956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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