Variant report

Variant	rs10861170
Chromosome Location	chr12:104615957-104615958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:104615681-104615963	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr12:104615699-104616081	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:6 , 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	chr12:104611665..104617222-chr12:104678192..104683063,15	MCF-7	breast:
4	chr12:104612436..104616572-chr12:104617042..104624166,8	MCF-7	breast:
5	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
6	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]
rs10745993	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10861169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861171	0.92[AFR][1000 genomes]
rs10861180	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4321026	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4406890	0.81[ASN][1000 genomes]
rs4475991	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4964256	0.84[AFR][1000 genomes]
rs4964678	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60903309	0.94[AFR][1000 genomes]
rs6539130	0.84[AFR][1000 genomes]
rs7137288	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297296	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7313063	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314893	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73392585	0.82[AFR][1000 genomes]
rs7957725	0.81[ASN][1000 genomes]
rs7966970	0.92[AFR][1000 genomes]
rs7966973	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7975524	0.88[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104612200-104617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104612400-104616400	Enhancers	Placenta	Placenta
3	chr12:104613000-104616000	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:104614000-104616000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:104614000-104616000	Weak transcription	Thymus	Thymus
6	chr12:104614000-104617200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:104614000-104617200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:104614000-104617400	Weak transcription	HSMMtube	muscle
9	chr12:104614000-104619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:104614000-104623400	Weak transcription	Right Atrium	heart
11	chr12:104614200-104616000	Enhancers	Hela-S3	cervix
12	chr12:104614200-104616600	Weak transcription	Fetal Lung	lung
13	chr12:104614200-104616800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104614200-104617400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:104614200-104619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104614400-104617000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:104614600-104616600	Enhancers	Pancreas	Pancrea
18	chr12:104615000-104617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104615000-104617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104615000-104617400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:104615000-104617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:104615000-104617400	Weak transcription	Fetal Stomach	stomach
23	chr12:104615000-104617400	Weak transcription	HMEC	breast
24	chr12:104615000-104620200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:104615000-104625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:104615400-104617400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:104615600-104616000	Flanking Active TSS	A549	lung
28	chr12:104615600-104617000	Weak transcription	Stomach Mucosa	stomach
29	chr12:104615800-104616800	Weak transcription	NHLF	lung

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