Variant report

Variant	rs58313981
Chromosome Location	chr9:116845387-116845388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr9:116844285-116845446	A549	lung:	n/a	n/a
2	RAD21	chr9:116844500-116845396	SK-N-SH	brain:	n/a	chr9:116844947-116844957 chr9:116844942-116844961 chr9:116844947-116844959 chr9:116844945-116844958
3	POLR2A	chr9:116842329-116845543	HepG2	liver:	n/a	n/a
4	SMC3	chr9:116844535-116845449	SK-N-SH	brain:	n/a	chr9:116844947-116844957 chr9:116844943-116844957
5	MAX	chr9:116842352-116845390	A549	lung:	n/a	chr9:116843452-116843462 chr9:116844878-116844888

No.	Distal block	Cell Line	Cell type
1	chr9:116836828..116838763-chr9:116843693..116846191,2	K562	blood:
2	chr9:116843708..116846188-chr9:116846451..116849353,3	MCF-7	breast:
3	chr9:116837232..116841114-chr9:116841892..116845820,4	MCF-7	breast:
4	chr9:116845277..116847223-chr9:116852930..116854750,2	K562	blood:
5	chr9:116844247..116845566-chr9:117052560..117054100,7	MCF-7	breast:
6	chr9:116844450..116845667-chr9:117052850..117054752,10	K562	blood:
7	chr9:116844583..116845499-chr9:117067855..117068993,4	MCF-7	breast:
8	chr9:116844851..116845417-chr9:117067843..117068379,2	MCF-7	breast:
9	chr9:116843600..116846294-chr9:117069884..117072218,2	MCF-7	breast:
10	chr9:116844678..116846349-chr9:117050619..117053590,2	MCF-7	breast:
11	chr9:116844498..116845455-chr9:117033807..117034432,3	MCF-7	breast:
12	chr9:116844543..116845536-chr9:117026114..117026681,2	K562	blood:

Variant related genes	Relation type
AMBP	TF binding region
ENSG00000196739	Chromatin interaction
ENSG00000106927	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16912505	1.00[EUR][1000 genomes]
rs34412510	1.00[EUR][1000 genomes]
rs34578955	1.00[EUR][1000 genomes]
rs35739679	1.00[EUR][1000 genomes]
rs56263506	1.00[EUR][1000 genomes]
rs57079546	1.00[EUR][1000 genomes]
rs60345423	1.00[EUR][1000 genomes]
rs61126346	1.00[EUR][1000 genomes]
rs7024049	1.00[EUR][1000 genomes]
rs7039786	1.00[EUR][1000 genomes]
rs73543951	1.00[EUR][1000 genomes]
rs73557912	1.00[EUR][1000 genomes]
rs73658325	1.00[EUR][1000 genomes]
rs73658326	1.00[EUR][1000 genomes]
rs9696555	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv528822	chr9:116815777-116867054	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv466516	chr9:116815777-116867054	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv466518	chr9:116815777-116867054	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466519	chr9:116815777-116867054	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv466520	chr9:116815777-116867054	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv466521	chr9:116815777-116867054	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv466522	chr9:116815777-116867054	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv466523	chr9:116815777-116867054	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv471319	chr9:116815777-116867054	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
18	nsv615224	chr9:116815777-116867054	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv466524	chr9:116826842-116867054	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv466525	chr9:116826842-116867054	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv615225	chr9:116826842-116867054	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv996359	chr9:116839001-116847886	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116839800-116846200	Enhancers	Fetal Intestine Small	intestine
2	chr9:116840000-116847000	Enhancers	Fetal Intestine Large	intestine
3	chr9:116843000-116845400	Enhancers	Colonic Mucosa	Colon
4	chr9:116843000-116858800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:116844400-116845400	Flanking Active TSS	A549	lung
6	chr9:116844600-116845400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:116844800-116845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:116844800-116851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:116844800-116855400	Weak transcription	Gastric	stomach
10	chr9:116845000-116845400	Enhancers	Colon Smooth Muscle	Colon
11	chr9:116845000-116845400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:116845000-116846000	Enhancers	Fetal Muscle Leg	muscle
13	chr9:116845000-116847200	Enhancers	Fetal Stomach	stomach
14	chr9:116845000-116847400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:116845200-116845400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:116845200-116846000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr9:116845200-116846200	Enhancers	Liver	Liver
18	chr9:116845200-116846400	Weak transcription	Fetal Kidney	kidney
19	chr9:116845200-116846800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:116845200-116849000	Enhancers	HepG2	liver
21	chr9:116845200-116850000	Weak transcription	Fetal Lung	lung
22	chr9:116845200-116854200	Weak transcription	Pancreas	Pancrea
23	chr9:116845200-116854600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:116845200-116855000	Weak transcription	Duodenum Mucosa	Duodenum

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