Variant report

Variant	rs57712738
Chromosome Location	chr12:29727302-29727303
allele	C/G/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:3)

rs_ID	r²[population]
rs12810686	0.90[AFR][1000 genomes]
rs1347568	1.00[AFR][1000 genomes]
rs34384320	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:29709800-29756200	Weak transcription	HMEC	breast
3	chr12:29712600-29734600	Weak transcription	Liver	Liver
4	chr12:29713200-29731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:29715400-29731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:29717600-29727400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:29717600-29727800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:29717600-29734800	Weak transcription	NHLF	lung
11	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
12	chr12:29717800-29732200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:29718600-29727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:29720000-29731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:29720000-29731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:29720200-29728600	Weak transcription	Gastric	stomach
17	chr12:29720200-29735000	Weak transcription	NHDF-Ad	bronchial
18	chr12:29720200-29735800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:29722400-29730200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:29722400-29733600	Weak transcription	Ovary	ovary
22	chr12:29722400-29735400	Weak transcription	HSMMtube	muscle
23	chr12:29722600-29735200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
25	chr12:29722800-29735400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29722800-29735800	Weak transcription	Fetal Kidney	kidney
27	chr12:29723000-29735200	Weak transcription	HSMM	muscle
28	chr12:29723200-29730200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:29723400-29729200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:29724000-29730600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:29724600-29727800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:29725200-29727600	Weak transcription	Spleen	Spleen
33	chr12:29725600-29727800	Enhancers	Fetal Heart	heart
34	chr12:29725600-29730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:29725600-29730200	Weak transcription	Right Ventricle	heart
36	chr12:29725600-29733400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:29725600-29735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:29725800-29729600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:29725800-29735200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:29726000-29731000	Weak transcription	Hela-S3	cervix
41	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:29726200-29728800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:29726200-29731400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:29726200-29734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:29726200-29735200	Weak transcription	Aorta	Aorta
46	chr12:29726400-29728800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:29726600-29728600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:29727000-29727800	Weak transcription	Left Ventricle	heart
49	chr12:29727000-29731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:29727000-29735200	Weak transcription	Fetal Muscle Leg	muscle

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