Variant report

Variant	rs4628742
Chromosome Location	chr12:119631654-119631655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11064705	1.00[AMR][1000 genomes]
rs12298452	0.83[AMR][1000 genomes]
rs12304226	0.83[AMR][1000 genomes]
rs13378054	0.83[AMR][1000 genomes]
rs55845457	0.83[AMR][1000 genomes]
rs56134777	0.83[AMR][1000 genomes]
rs56249836	0.83[AMR][1000 genomes]
rs59338565	1.00[AMR][1000 genomes]
rs60038524	1.00[AMR][1000 genomes]
rs7959112	0.83[AMR][1000 genomes]
rs7959670	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
3	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
4	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
8	chr12:119627000-119631800	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:119627000-119632000	Strong transcription	Aorta	Aorta
10	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:119627200-119633600	Weak transcription	NH-A	brain
13	chr12:119627200-119634400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:119627400-119635600	Weak transcription	Osteobl	bone
16	chr12:119627600-119632600	Strong transcription	Lung	lung
17	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:119627800-119632000	Weak transcription	Fetal Lung	lung
19	chr12:119627800-119632400	Strong transcription	HSMMtube	muscle
20	chr12:119627800-119632800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:119627800-119646600	Weak transcription	Gastric	stomach
22	chr12:119628200-119632000	Weak transcription	Fetal Stomach	stomach
23	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
25	chr12:119629200-119633400	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:119629200-119633400	Strong transcription	Right Ventricle	heart
27	chr12:119629200-119634400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:119629200-119634400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:119629200-119634600	Strong transcription	Placenta	Placenta
30	chr12:119629200-119635200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:119629400-119632200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:119629400-119633400	Strong transcription	Left Ventricle	heart
33	chr12:119629400-119633800	Strong transcription	Colon Smooth Muscle	Colon
34	chr12:119629400-119633800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:119629600-119636400	Weak transcription	Right Atrium	heart
36	chr12:119630600-119632200	Strong transcription	Psoas Muscle	Psoas
37	chr12:119630800-119632400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:119630800-119632400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:119630800-119634400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:119631000-119632800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr12:119631000-119633200	Strong transcription	Ovary	ovary
42	chr12:119631000-119633200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr12:119631000-119633400	Strong transcription	Spleen	Spleen
44	chr12:119631000-119633800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:119631200-119632400	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:119631200-119639200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:119631400-119632400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:119631400-119632400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:119631400-119632400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:119631400-119632400	Strong transcription	HSMM	muscle

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