Variant report

Variant	rs56105274
Chromosome Location	chr12:119644063-119644064
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56033563	0.97[ASN][1000 genomes]
rs56169813	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213461	0.83[ASN][1000 genomes]
rs73213463	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412051	0.92[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119627800-119646600	Weak transcription	Gastric	stomach
2	chr12:119636600-119644200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:119636600-119645000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:119637400-119645800	Weak transcription	Esophagus	oesophagus
5	chr12:119640800-119644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:119640800-119644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:119640800-119645200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:119641400-119644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:119642400-119644200	Weak transcription	Fetal Brain Male	brain
10	chr12:119642400-119645800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:119642600-119645000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:119642800-119644400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:119642800-119644600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:119642800-119644800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:119642800-119645200	Weak transcription	Right Atrium	heart
16	chr12:119643000-119644200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:119643000-119644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:119643000-119644200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:119643000-119644200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:119643000-119645000	Weak transcription	Fetal Stomach	stomach
21	chr12:119643200-119644200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:119643200-119644200	Weak transcription	Fetal Lung	lung
23	chr12:119643200-119644200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:119643200-119644200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:119643200-119644200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:119643200-119645200	Weak transcription	Placenta	Placenta
27	chr12:119643200-119645200	Weak transcription	Left Ventricle	heart
28	chr12:119643200-119645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:119643200-119645600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:119643200-119645800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:119643200-119645800	Weak transcription	Fetal Heart	heart
32	chr12:119643200-119645800	Weak transcription	Right Ventricle	heart
33	chr12:119643200-119646000	Weak transcription	Psoas Muscle	Psoas
34	chr12:119643200-119649800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:119643400-119644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:119644000-119644400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:119644000-119647200	Enhancers	Colon Smooth Muscle	Colon
38	chr12:119644000-119647200	Enhancers	Fetal Muscle Leg	muscle

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