Variant report

Variant	rs56169813
Chromosome Location	chr12:119644429-119644430
allele	C/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]
rs56105274	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	0.89[AMR][1000 genomes];0.87[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	chr12:119636600-119645000	Weak transcription	Brain Anterior Caudate	brain
3	chr12:119637400-119645800	Weak transcription	Esophagus	oesophagus
4	chr12:119640800-119645200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:119641400-119644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:119642400-119645800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:119642600-119645000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:119642800-119644600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:119642800-119644800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:119642800-119645200	Weak transcription	Right Atrium	heart
11	chr12:119643000-119645000	Weak transcription	Fetal Stomach	stomach
12	chr12:119643200-119645200	Weak transcription	Placenta	Placenta
13	chr12:119643200-119645200	Weak transcription	Left Ventricle	heart
14	chr12:119643200-119645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:119643200-119645600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:119643200-119645800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:119643200-119645800	Weak transcription	Fetal Heart	heart
18	chr12:119643200-119645800	Weak transcription	Right Ventricle	heart
19	chr12:119643200-119646000	Weak transcription	Psoas Muscle	Psoas
20	chr12:119643200-119649800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:119643400-119644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:119644000-119647200	Enhancers	Colon Smooth Muscle	Colon
23	chr12:119644000-119647200	Enhancers	Fetal Muscle Leg	muscle
24	chr12:119644200-119644600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:119644200-119644800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:119644200-119644800	Enhancers	Fetal Muscle Trunk	muscle
27	chr12:119644200-119645000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:119644200-119645200	Enhancers	Fetal Brain Male	brain
29	chr12:119644200-119645400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:119644200-119645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:119644200-119645800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:119644200-119645800	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:119644200-119646200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:119644200-119647000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:119644200-119647000	Enhancers	Fetal Lung	lung
36	chr12:119644200-119647200	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:119644400-119644600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr12:119644400-119646000	Enhancers	H1 Cell Line	embryonic stem cell

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