Variant report

Variant	rs2017414
Chromosome Location	chr12:118545361-118545362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118545199..118547694-chr12:118551090..118555131,3	K562	blood:
2	chr12:118540247..118543353-chr12:118543560..118547055,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12423154	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423959	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2936840	0.82[ASN][1000 genomes]
rs3847652	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56070243	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61943518	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61943519	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61943521	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73217996	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956285	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7961197	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970036	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118546000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:118542400-118552600	Weak transcription	Fetal Brain Female	brain
3	chr12:118542400-118552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:118542400-118553600	Weak transcription	Pancreas	Pancrea
5	chr12:118542400-118553800	Weak transcription	Liver	Liver
6	chr12:118542400-118554600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:118542400-118556600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:118542400-118558400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:118542400-118558400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:118542400-118558400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:118542400-118558400	Weak transcription	Fetal Kidney	kidney
12	chr12:118542400-118558800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:118542400-118559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:118542400-118562400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:118542600-118545600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:118542600-118546000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:118542600-118546200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:118542600-118546200	Weak transcription	Fetal Intestine Small	intestine
20	chr12:118542600-118552600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:118542600-118552600	Weak transcription	A549	lung
22	chr12:118542600-118552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:118542600-118553600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:118542600-118558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:118542600-118558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:118542600-118558400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:118542600-118558400	Weak transcription	NHEK	skin
28	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:118543200-118546000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:118544600-118546200	Enhancers	Placenta	Placenta
33	chr12:118544800-118545400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:118544800-118545400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:118544800-118545400	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:118544800-118546600	Enhancers	HepG2	liver
37	chr12:118545000-118545400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:118545200-118545600	Weak transcription	Stomach Mucosa	stomach
39	chr12:118545200-118545800	Enhancers	Fetal Intestine Large	intestine
40	chr12:118545200-118546400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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