Variant report

Variant	rs393839
Chromosome Location	chr12:29912071-29912072
allele	G/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]
rs10743675	0.83[EUR][1000 genomes]
rs302316	0.86[EUR][1000 genomes]
rs302319	0.86[EUR][1000 genomes]
rs302320	0.86[EUR][1000 genomes]
rs302322	0.86[EUR][1000 genomes]
rs34806272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413884	0.86[EUR][1000 genomes]
rs437999	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs441394	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57756035	0.83[EUR][1000 genomes]
rs7957615	0.83[EUR][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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
2	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29897200-29916000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:29898200-29915800	Weak transcription	Liver	Liver
9	chr12:29898600-29921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:29901200-29915800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:29902600-29915800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:29903600-29915200	Weak transcription	Fetal Brain Female	brain
13	chr12:29903800-29915600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:29904200-29916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:29904200-29928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:29904400-29915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:29904400-29916800	Weak transcription	Gastric	stomach
18	chr12:29904600-29927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:29904800-29915600	Weak transcription	Esophagus	oesophagus
20	chr12:29904800-29924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:29905000-29915800	Weak transcription	Lung	lung
22	chr12:29905600-29915600	Weak transcription	HSMMtube	muscle
23	chr12:29906600-29915600	Weak transcription	Psoas Muscle	Psoas
24	chr12:29906600-29928400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:29906800-29915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:29907400-29915600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:29907600-29915000	Weak transcription	Right Atrium	heart
28	chr12:29907800-29914800	Weak transcription	Right Ventricle	heart
29	chr12:29908400-29915200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:29908800-29918800	Weak transcription	Hela-S3	cervix
31	chr12:29908800-29920800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:29908800-29925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:29909400-29915600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:29909400-29916200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:29909600-29912800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:29909600-29912800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:29909800-29916000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:29910200-29912200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:29910200-29912600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:29910200-29912800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:29910200-29915400	Weak transcription	Fetal Brain Male	brain
42	chr12:29910200-29915600	Weak transcription	Fetal Heart	heart
43	chr12:29910400-29921400	Weak transcription	NHLF	lung
44	chr12:29910600-29912800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:29910600-29913000	Weak transcription	HSMM	muscle
46	chr12:29910600-29913200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr12:29910600-29915400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:29910600-29915800	Weak transcription	NHDF-Ad	bronchial
49	chr12:29910600-29921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:29910600-29921400	Weak transcription	Osteobl	bone

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