Variant report

Variant	rs12322245
Chromosome Location	chr12:104614909-104614910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:104612668-104615129	A549	lung:	n/a	n/a
2	SIX5	chr12:104612643-104614957	A549	lung:	n/a	n/a
3	GTF3C2	chr12:104612798-104615011	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104614582..104616135-chr12:104689398..104692216,2	MCF-7	breast:
2	chr12:104609968..104613463-chr12:104614519..104618118,3	K562	blood:
3	chr12:104613868..104615389-chr12:104679010..104681119,2	K562	blood:
4	chr12:104611665..104617222-chr12:104678192..104683063,15	MCF-7	breast:
5	chr12:104612436..104616572-chr12:104617042..104624166,8	MCF-7	breast:
6	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
7	chr12:104613560..104615348-chr12:104617225..104620017,2	MCF-7	breast:
8	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

No data

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10400561	0.84[AFR][1000 genomes]
rs11111931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11111946	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12296767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12308914	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12310731	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12311576	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12314235	0.84[EUR][1000 genomes]
rs12322184	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17035297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57554346	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59871203	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61524019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73392581	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73392582	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73392588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73392593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73394507	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73394524	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73394536	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104612000-104615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:104612200-104615000	Enhancers	HMEC	breast
3	chr12:104612200-104617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:104612400-104616400	Enhancers	Placenta	Placenta
5	chr12:104612600-104615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104612800-104615000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:104612800-104615000	Enhancers	Fetal Stomach	stomach
8	chr12:104613000-104615600	Enhancers	Stomach Mucosa	stomach
9	chr12:104613000-104616000	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:104613600-104615000	Enhancers	Left Ventricle	heart
11	chr12:104613800-104615000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:104614000-104615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:104614000-104615000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:104614000-104615000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104614000-104615000	Enhancers	NHDF-Ad	bronchial
16	chr12:104614000-104615000	Enhancers	NHEK	skin
17	chr12:104614000-104616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:104614000-104616000	Weak transcription	Thymus	Thymus
19	chr12:104614000-104617200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:104614000-104617200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:104614000-104617400	Weak transcription	HSMMtube	muscle
22	chr12:104614000-104619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:104614000-104623400	Weak transcription	Right Atrium	heart
24	chr12:104614200-104615800	Enhancers	HUVEC	blood vessel
25	chr12:104614200-104615800	Enhancers	NHLF	lung
26	chr12:104614200-104616000	Enhancers	Hela-S3	cervix
27	chr12:104614200-104616600	Weak transcription	Fetal Lung	lung
28	chr12:104614200-104616800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:104614200-104617400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:104614200-104619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:104614400-104615000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:104614400-104617000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:104614600-104615000	Enhancers	Stomach Smooth Muscle	stomach
34	chr12:104614600-104616600	Enhancers	Pancreas	Pancrea
35	chr12:104614800-104615000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104614800-104615000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:104614800-104615000	Enhancers	Gastric	stomach
38	chr12:104614800-104615000	Enhancers	Lung	lung
39	chr12:104614800-104615000	Enhancers	Ovary	ovary
40	chr12:104614800-104615000	Enhancers	Right Ventricle	heart
41	chr12:104614800-104615600	Enhancers	A549	lung

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