Variant report

Variant	rs72800841
Chromosome Location	chr16:31014247-31014248
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
2	chr16:31011772..31015018-chr16:31043547..31045573,3	MCF-7	breast:
3	chr16:31012265..31014466-chr16:31083623..31085542,3	MCF-7	breast:
4	chr16:31001398..31004336-chr16:31012819..31014564,2	MCF-7	breast:
5	chr16:31012830..31015179-chr16:31017421..31020382,2	MCF-7	breast:
6	chr16:31012351..31014401-chr16:31190659..31192180,2	MCF-7	breast:
7	chr16:31012820..31015317-chr16:31101271..31104026,2	MCF-7	breast:
8	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
9	chr16:31012635..31015487-chr16:31017692..31019843,2	K562	blood:
10	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167394	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55731737	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908605	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72800842	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72800845	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72800846	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72800849	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72800854	0.82[EUR][1000 genomes]
rs72800858	0.80[EUR][1000 genomes]
rs9788865	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009000-31020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:31009200-31020400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
4	chr16:31009400-31015000	Enhancers	Placenta	Placenta
5	chr16:31009400-31020600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:31009800-31021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:31010200-31020800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:31010600-31017600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:31011000-31017000	Weak transcription	Fetal Brain Female	brain
10	chr16:31011200-31016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:31011200-31018600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:31011200-31019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:31012600-31014800	Enhancers	Esophagus	oesophagus
14	chr16:31012600-31020400	Weak transcription	Brain Germinal Matrix	brain
15	chr16:31013000-31014400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:31013000-31014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:31013000-31015400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr16:31013200-31015000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr16:31013200-31015000	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr16:31013200-31018800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:31013400-31014400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr16:31013400-31014600	Enhancers	Fetal Muscle Leg	muscle
23	chr16:31013400-31014800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:31013600-31014400	Enhancers	HSMMtube	muscle
25	chr16:31013600-31014600	Enhancers	Brain Cingulate Gyrus	brain
26	chr16:31013600-31014600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr16:31013800-31015000	Enhancers	Fetal Thymus	thymus
28	chr16:31013800-31015200	Weak transcription	Right Ventricle	heart
29	chr16:31013800-31015400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:31013800-31015600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:31013800-31016200	Weak transcription	Fetal Intestine Small	intestine
32	chr16:31013800-31017600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:31013800-31021000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:31014000-31014400	Enhancers	NH-A	brain
35	chr16:31014000-31014600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:31014000-31014600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:31014000-31014600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:31014000-31014600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr16:31014000-31015400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:31014000-31015800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr16:31014000-31017000	Weak transcription	K562	blood
42	chr16:31014000-31017200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:31014000-31017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:31014000-31017400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr16:31014200-31015400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:31014200-31017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:31014200-31019200	Weak transcription	HMEC	breast
48	chr16:31014200-31019600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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