Variant report

Variant	rs56203448
Chromosome Location	chr12:4524514-4524515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17177095	1.00[AMR][1000 genomes]
rs17177102	1.00[AMR][1000 genomes]
rs34242303	1.00[AFR][1000 genomes]
rs55917079	1.00[AFR][1000 genomes]
rs56153850	1.00[AFR][1000 genomes]
rs57042528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59947976	1.00[AMR][1000 genomes]
rs74061616	1.00[AFR][1000 genomes]
rs74061617	1.00[AFR][1000 genomes]
rs74061620	1.00[AFR][1000 genomes]
rs74061621	1.00[AFR][1000 genomes]
rs74061622	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585	chr12:4514249-4559242	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4523200-4526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4523800-4524600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4523800-4525000	Enhancers	Fetal Thymus	thymus
4	chr12:4524000-4524600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:4524000-4524600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:4524000-4524600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:4524000-4524600	Enhancers	Fetal Intestine Small	intestine
8	chr12:4524000-4524600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr12:4524000-4524600	Enhancers	Lung	lung
10	chr12:4524000-4524800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr12:4524000-4524800	Enhancers	Left Ventricle	heart
12	chr12:4524000-4524800	Enhancers	Right Atrium	heart
13	chr12:4524000-4524800	Enhancers	Thymus	Thymus
14	chr12:4524000-4524800	Enhancers	HSMM	muscle
15	chr12:4524000-4524800	Enhancers	K562	blood
16	chr12:4524000-4525000	Flanking Active TSS	Dnd41	blood
17	chr12:4524000-4525200	Enhancers	Brain Germinal Matrix	brain
18	chr12:4524000-4525200	Enhancers	Fetal Intestine Large	intestine
19	chr12:4524000-4525200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr12:4524000-4525600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:4524200-4524600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr12:4524200-4524600	Enhancers	Gastric	stomach
23	chr12:4524200-4524600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr12:4524200-4524600	Flanking Active TSS	HSMMtube	muscle
25	chr12:4524200-4524800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr12:4524200-4524800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:4524200-4524800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:4524200-4524800	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr12:4524200-4524800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:4524200-4524800	Enhancers	Right Ventricle	heart
31	chr12:4524200-4525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:4524200-4525000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr12:4524200-4525000	Enhancers	Stomach Smooth Muscle	stomach
34	chr12:4524200-4525200	Enhancers	Fetal Heart	heart
35	chr12:4524200-4527200	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:4524400-4524600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:4524400-4524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:4524400-4524600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:4524400-4524600	Flanking Active TSS	Fetal Brain Male	brain
40	chr12:4524400-4524600	Enhancers	Fetal Brain Female	brain
41	chr12:4524400-4524600	Bivalent/Poised TSS	NHEK	skin
42	chr12:4524400-4524800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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