Variant report

Variant	rs61922588
Chromosome Location	chr12:29934929-29934930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61922589	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61922607	0.91[AMR][1000 genomes];0.83[EUR][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826294	chr12:29934604-29940372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29932400-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:29932400-29935200	Weak transcription	Spleen	Spleen
3	chr12:29932800-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29933000-29937800	Active TSS	Aorta	Aorta
5	chr12:29933400-29935000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:29933800-29937800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:29934000-29935000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:29934000-29935000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:29934000-29935000	Flanking Active TSS	Hela-S3	cervix
10	chr12:29934000-29935200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:29934000-29935600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:29934000-29936400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:29934000-29937800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:29934000-29937800	Active TSS	Fetal Kidney	kidney
15	chr12:29934000-29937800	Active TSS	NHLF	lung
16	chr12:29934000-29938000	Active TSS	Right Ventricle	heart
17	chr12:29934200-29935000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:29934200-29935000	Flanking Active TSS	HMEC	breast
19	chr12:29934200-29935200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:29934200-29935400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:29934200-29935600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr12:29934200-29935800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:29934200-29937400	Active TSS	Lung	lung
24	chr12:29934200-29937600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr12:29934200-29937600	Active TSS	Rectal Smooth Muscle	rectum
26	chr12:29934200-29937800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:29934400-29935000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr12:29934400-29935200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr12:29934400-29935200	Flanking Active TSS	Fetal Heart	heart
30	chr12:29934400-29935400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr12:29934400-29935600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:29934400-29936400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:29934400-29937600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:29934400-29937600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:29934400-29937600	Bivalent/Poised TSS	Thymus	Thymus
36	chr12:29934400-29937800	Active TSS	Brain Anterior Caudate	brain
37	chr12:29934400-29937800	Active TSS	Brain Hippocampus Middle	brain
38	chr12:29934400-29937800	Active TSS	Fetal Brain Female	brain
39	chr12:29934600-29935000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:29934600-29935000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:29934600-29935000	Flanking Active TSS	HSMMtube	muscle
42	chr12:29934600-29935200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:29934600-29936600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:29934600-29937400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr12:29934600-29937800	Active TSS	Right Atrium	heart
46	chr12:29934600-29937800	Active TSS	Stomach Smooth Muscle	stomach
47	chr12:29934800-29935000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr12:29934800-29935000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:29934800-29935000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:29934800-29935000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood

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