Variant report

Variant	rs11706153
Chromosome Location	chr3:48694981-48694982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48616186..48618444-chr3:48693740..48696673,2	MCF-7	breast:
2	chr3:48671879..48673850-chr3:48694137..48695935,2	MCF-7	breast:
3	chr3:48682961..48685623-chr3:48693830..48696752,2	MCF-7	breast:
4	chr3:48689444..48692588-chr3:48693029..48695522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225697	Chromatin interaction
ENSG00000211535	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11712752	1.00[AMR][1000 genomes]
rs11715496	1.00[AMR][1000 genomes]
rs34732773	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv3407141	chr3:48692473-48695321	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
2	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:48693200-48695600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
5	chr3:48693400-48696800	Enhancers	Fetal Brain Male	brain
6	chr3:48693600-48695000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:48694000-48698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:48694200-48695600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:48694200-48695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:48694200-48696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:48694200-48696400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:48694200-48696400	Weak transcription	HepG2	liver
13	chr3:48694200-48696800	Weak transcription	A549	lung
14	chr3:48694200-48698400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:48694200-48698600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:48694200-48698600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:48694200-48698600	Weak transcription	HSMMtube	muscle
18	chr3:48694200-48699000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:48694400-48695000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:48694400-48695000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:48694400-48695000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:48694400-48695000	Enhancers	Pancreas	Pancrea
23	chr3:48694400-48695000	Enhancers	Right Ventricle	heart
24	chr3:48694400-48695200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:48694400-48695200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:48694400-48695800	Weak transcription	Brain Anterior Caudate	brain
27	chr3:48694400-48695800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:48694400-48696200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:48694400-48696400	Weak transcription	Brain Angular Gyrus	brain
30	chr3:48694400-48696800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:48694400-48697400	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:48694400-48698200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:48694400-48698600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:48694400-48698600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:48694400-48698800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:48694400-48698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:48694400-48698800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:48694400-48698800	Weak transcription	HUVEC	blood vessel
39	chr3:48694600-48695000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:48694600-48695000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr3:48694600-48695000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:48694600-48695000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:48694600-48695000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr3:48694600-48695000	Genic enhancers	Fetal Brain Female	brain
45	chr3:48694600-48695000	Enhancers	Placenta	Placenta
46	chr3:48694600-48695000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr3:48694600-48695000	Enhancers	Spleen	Spleen
48	chr3:48694600-48695200	Enhancers	Primary B cells from peripheral blood	blood
49	chr3:48694600-48696400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:48694600-48698800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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