Variant report

Variant	rs73047202
Chromosome Location	chr3:179182443-179182444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73052784	1.00[EUR][1000 genomes]
rs7617318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv967095	chr3:179181609-179184266	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179180000-179183000	Enhancers	Primary hematopoietic stem cells	blood
2	chr3:179181200-179182800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:179181400-179183000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:179181600-179182800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:179181800-179182600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr3:179181800-179182800	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:179181800-179182800	Enhancers	Esophagus	oesophagus
8	chr3:179181800-179182800	Enhancers	Placenta	Placenta
9	chr3:179181800-179183000	Enhancers	Fetal Thymus	thymus
10	chr3:179181800-179183200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:179182000-179182600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:179182000-179182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:179182000-179182600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:179182000-179182600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:179182000-179182600	Enhancers	Thymus	Thymus
16	chr3:179182000-179182600	Flanking Active TSS	HMEC	breast
17	chr3:179182000-179183000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:179182200-179182600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:179182200-179182600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:179182200-179182600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:179182200-179182600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr3:179182200-179182600	Active TSS	Brain Hippocampus Middle	brain
23	chr3:179182200-179182600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:179182200-179182600	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr3:179182200-179182600	Enhancers	Fetal Kidney	kidney
26	chr3:179182200-179182600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:179182200-179182600	Flanking Active TSS	NHEK	skin
28	chr3:179182200-179182800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:179182200-179182800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:179182200-179182800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:179182200-179182800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:179182200-179182800	Enhancers	GM12878-XiMat	blood
33	chr3:179182200-179182800	Flanking Active TSS	K562	blood
34	chr3:179182400-179182800	Enhancers	Primary T cells from cord blood	blood
35	chr3:179182400-179183000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:179182400-179183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:179182400-179183000	Enhancers	Primary neutrophils fromperipheralblood	blood

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