Variant report

Variant	rs58397636
Chromosome Location	chr12:29699632-29699633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs60025447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957216	1.00[AMR][1000 genomes]
rs9888419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv983497	chr12:29696128-29702801	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29689400-29700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:29691200-29709200	Weak transcription	HMEC	breast
9	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
10	chr12:29696400-29706000	Weak transcription	Aorta	Aorta
11	chr12:29696600-29700000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:29696600-29705600	Weak transcription	Osteobl	bone
13	chr12:29697200-29701400	Enhancers	Fetal Muscle Leg	muscle
14	chr12:29697400-29700000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:29697400-29700600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:29697400-29701400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:29697800-29700400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:29698000-29700000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:29698000-29701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:29698000-29701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:29698200-29699800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:29698200-29700000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:29698200-29712600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:29698600-29701200	Enhancers	NHDF-Ad	bronchial
25	chr12:29698800-29699800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29698800-29700200	Enhancers	Ovary	ovary
27	chr12:29698800-29701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:29698800-29701200	Enhancers	NHLF	lung
29	chr12:29699000-29700000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr12:29699000-29700000	Enhancers	Psoas Muscle	Psoas
31	chr12:29699000-29700600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:29699000-29700800	Enhancers	HSMM	muscle
33	chr12:29699200-29699800	Enhancers	Lung	lung
34	chr12:29699200-29700400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:29699200-29700600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:29699200-29701000	Enhancers	HSMMtube	muscle
37	chr12:29699200-29701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:29699400-29700000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:29699400-29700400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:29699400-29700400	Enhancers	Fetal Muscle Trunk	muscle
41	chr12:29699400-29701000	Enhancers	Liver	Liver
42	chr12:29699400-29701200	Enhancers	Fetal Stomach	stomach
43	chr12:29699400-29704800	Weak transcription	Spleen	Spleen
44	chr12:29699400-29709600	Weak transcription	Left Ventricle	heart
45	chr12:29699400-29715800	Weak transcription	Right Ventricle	heart
46	chr12:29699600-29699800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:29699600-29700000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:29699600-29700800	Enhancers	Stomach Smooth Muscle	stomach
49	chr12:29699600-29701000	Enhancers	Muscle Satellite Cultured Cells	--

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