Variant report

Variant	rs74017959
Chromosome Location	chr16:48468459-48468460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48398863..48400764-chr16:48467707..48470149,2	K562	blood:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35274056	0.96[ASN][1000 genomes]
rs61183042	0.92[ASN][1000 genomes]
rs7197521	0.88[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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
7	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48461200-48469000	Weak transcription	Right Atrium	heart
2	chr16:48461800-48468800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:48462800-48468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:48464000-48470000	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:48465600-48470200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:48465800-48469800	Enhancers	Primary hematopoietic stem cells	blood
7	chr16:48466000-48469400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:48466200-48470200	Enhancers	Placenta	Placenta
9	chr16:48466400-48468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:48466400-48468600	Enhancers	Colonic Mucosa	Colon
11	chr16:48466400-48468800	Weak transcription	Left Ventricle	heart
12	chr16:48466400-48469400	Enhancers	Primary B cells from cord blood	blood
13	chr16:48466400-48487200	Weak transcription	Right Ventricle	heart
14	chr16:48466600-48468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:48466600-48469400	Enhancers	GM12878-XiMat	blood
16	chr16:48467000-48470200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:48467200-48469400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:48467400-48469200	Enhancers	Lung	lung
19	chr16:48467600-48468800	Enhancers	Fetal Thymus	thymus
20	chr16:48467600-48469400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr16:48467800-48468800	Bivalent Enhancer	HepG2	liver
22	chr16:48467800-48469000	Weak transcription	Spleen	Spleen
23	chr16:48468000-48469200	Enhancers	Duodenum Mucosa	Duodenum
24	chr16:48468000-48469400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:48468200-48469000	Enhancers	Primary T cells from cord blood	blood
26	chr16:48468400-48468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:48468400-48468600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr16:48468400-48468600	Enhancers	Stomach Mucosa	stomach
29	chr16:48468400-48468600	Enhancers	A549	lung
30	chr16:48468400-48468800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:48468400-48468800	Enhancers	Liver	Liver
32	chr16:48468400-48469000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr16:48468400-48469200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:48468400-48469200	Enhancers	Aorta	Aorta
35	chr16:48468400-48469400	Enhancers	Fetal Muscle Leg	muscle
36	chr16:48468400-48470200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:48468400-48470200	Enhancers	Adipose Nuclei	Adipose

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