Variant report

Variant	rs72800842
Chromosome Location	chr16:31015439-31015440
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
2	chr16:31014981..31017878-chr16:31019821..31021502,2	MCF-7	breast:
3	chr16:31015311..31017608-chr16:31032189..31035035,2	MCF-7	breast:
4	chr16:31015069..31017104-chr16:31061235..31063220,2	K562	blood:
5	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
6	chr16:31015384..31017554-chr16:31043816..31046429,2	MCF-7	breast:
7	chr16:31012635..31015487-chr16:31017692..31019843,2	K562	blood:

Variant related genes	Relation type
ENSG00000099365	Chromatin interaction
ENSG00000103496	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2054214	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55731737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55908605	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56193946	0.81[AFR][1000 genomes]
rs6565214	0.83[EUR][1000 genomes]
rs72799363	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72799368	0.81[AFR][1000 genomes]
rs72800841	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72800845	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72800846	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72800849	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72800854	0.85[EUR][1000 genomes]
rs72800858	0.83[EUR][1000 genomes]
rs9788865	0.89[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:33 , 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	chr16:31009400-31020600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:31009800-31021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:31010200-31020800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:31010600-31017600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:31011000-31017000	Weak transcription	Fetal Brain Female	brain
9	chr16:31011200-31016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:31011200-31018600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr16:31011200-31019800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:31012600-31020400	Weak transcription	Brain Germinal Matrix	brain
13	chr16:31013200-31018800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:31013800-31015600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:31013800-31016200	Weak transcription	Fetal Intestine Small	intestine
16	chr16:31013800-31017600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:31013800-31021000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:31014000-31015800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr16:31014000-31017000	Weak transcription	K562	blood
20	chr16:31014000-31017200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:31014000-31017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:31014000-31017400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:31014200-31017200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:31014200-31019200	Weak transcription	HMEC	breast
25	chr16:31014200-31019600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr16:31014400-31015600	Enhancers	Fetal Stomach	stomach
27	chr16:31014400-31018600	Weak transcription	NH-A	brain
28	chr16:31014400-31019200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:31014600-31019000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:31014800-31017200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:31015000-31016600	Bivalent Enhancer	HepG2	liver
32	chr16:31015000-31017400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr16:31015400-31020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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