Variant report

Variant	rs12924058
Chromosome Location	chr16:81306863-81306864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81300810..81303318-chr16:81304839..81306910,2	MCF-7	breast:
2	chr16:81305711..81315624-chr16:81344956..81353172,47	MCF-7	breast:
3	chr16:81298705..81303185-chr16:81306285..81312157,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260495	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12922930	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6564864	0.89[ASN][1000 genomes]
rs7192170	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
7	nsv527288	chr16:81204188-81310947	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv2755860	chr16:81262516-81333568	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81284600-81324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:81300200-81308600	Weak transcription	Gastric	stomach
3	chr16:81300200-81311000	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81300400-81312200	Weak transcription	Right Atrium	heart
5	chr16:81300600-81308600	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:81300600-81310000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81300600-81310000	Weak transcription	Spleen	Spleen
8	chr16:81301000-81307000	Weak transcription	Fetal Intestine Small	intestine
9	chr16:81304600-81307000	Weak transcription	Colonic Mucosa	Colon
10	chr16:81305600-81307800	Enhancers	Colon Smooth Muscle	Colon
11	chr16:81306000-81307000	Enhancers	Stomach Smooth Muscle	stomach
12	chr16:81306200-81307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:81306200-81307800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:81306200-81307800	Enhancers	Adipose Nuclei	Adipose
15	chr16:81306200-81307800	Enhancers	Rectal Smooth Muscle	rectum
16	chr16:81306400-81307000	Enhancers	Fetal Lung	lung
17	chr16:81306800-81307200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr16:81306800-81307400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr16:81306800-81308000	Enhancers	Esophagus	oesophagus
20	chr16:81306800-81311200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr16:81306800-81311600	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:81306800-81312000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:81306800-81312600	Enhancers	Stomach Mucosa	stomach

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