Variant report

Variant	rs12683458
Chromosome Location	chr9:94572722-94572723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94572281..94574995-chr9:94578094..94579689,2	MCF-7	breast:
2	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
3	chr9:94570310..94572963-chr9:94575340..94577393,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10119449	0.93[EUR][1000 genomes]
rs10992122	0.86[ASN][1000 genomes]
rs12337520	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12337908	0.93[EUR][1000 genomes]
rs12343368	1.00[EUR][1000 genomes]
rs12343786	0.93[EUR][1000 genomes]
rs28700038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57640589	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58489821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7022147	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7036027	0.93[EUR][1000 genomes]
rs7041224	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9657698	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv523940	chr9:94546564-94573753	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:94562000-94579400	Weak transcription	Gastric	stomach
3	chr9:94565200-94573000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:94565400-94575200	Enhancers	Stomach Smooth Muscle	stomach
5	chr9:94567600-94575400	Weak transcription	Ovary	ovary
6	chr9:94568000-94573000	Weak transcription	Right Atrium	heart
7	chr9:94568600-94573200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:94570200-94581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:94571600-94573200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:94571600-94573800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:94571600-94575000	Enhancers	Fetal Heart	heart
12	chr9:94571800-94573200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:94571800-94573200	Strong transcription	Fetal Intestine Small	intestine
14	chr9:94571800-94573200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr9:94571800-94574200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:94572000-94573000	Weak transcription	Spleen	Spleen
17	chr9:94572000-94574000	Genic enhancers	Fetal Stomach	stomach
18	chr9:94572000-94575000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:94572000-94579200	Weak transcription	NHLF	lung
20	chr9:94572000-94579600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:94572000-94579600	Enhancers	Fetal Lung	lung
22	chr9:94572200-94573000	Weak transcription	Esophagus	oesophagus
23	chr9:94572200-94573600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:94572400-94575000	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:94572400-94575000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:94572400-94587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:94572600-94573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:94572600-94574000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:94572600-94574200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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