Variant report

Variant	rs12312139
Chromosome Location	chr12:29700973-29700974
allele	A/T
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]
rs717197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300825	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301817	0.97[AFR][1000 genomes];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:48 , 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	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29691200-29709200	Weak transcription	HMEC	breast
8	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
9	chr12:29696400-29706000	Weak transcription	Aorta	Aorta
10	chr12:29696600-29705600	Weak transcription	Osteobl	bone
11	chr12:29697200-29701400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:29697400-29701400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:29698000-29701200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:29698000-29701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:29698200-29712600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:29698600-29701200	Enhancers	NHDF-Ad	bronchial
17	chr12:29698800-29701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29698800-29701200	Enhancers	NHLF	lung
19	chr12:29699200-29701000	Enhancers	HSMMtube	muscle
20	chr12:29699200-29701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:29699400-29701000	Enhancers	Liver	Liver
22	chr12:29699400-29701200	Enhancers	Fetal Stomach	stomach
23	chr12:29699400-29704800	Weak transcription	Spleen	Spleen
24	chr12:29699400-29709600	Weak transcription	Left Ventricle	heart
25	chr12:29699400-29715800	Weak transcription	Right Ventricle	heart
26	chr12:29699600-29701000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:29699800-29701000	Bivalent Enhancer	Fetal Lung	lung
28	chr12:29699800-29708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:29700000-29701000	Enhancers	Fetal Kidney	kidney
30	chr12:29700000-29701200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:29700000-29701200	Enhancers	Adipose Nuclei	Adipose
32	chr12:29700000-29712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:29700200-29701000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:29700200-29701000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29700200-29712200	Weak transcription	Ovary	ovary
36	chr12:29700400-29701600	Enhancers	Psoas Muscle	Psoas
37	chr12:29700400-29712000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:29700400-29719000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
40	chr12:29700600-29701000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:29700600-29708800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:29700600-29711400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:29700800-29701000	Enhancers	Lung	lung
44	chr12:29700800-29701400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr12:29700800-29705800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:29700800-29707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:29700800-29709000	Weak transcription	HSMM	muscle
48	chr12:29700800-29709600	Weak transcription	Stomach Smooth Muscle	stomach

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