Variant report

Variant	rs539282507
Chromosome Location	chr12:29696224-29696225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
2	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
8	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart
9	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:29682200-29697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:29688200-29699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29689400-29700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:29690800-29696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:29691200-29698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:29691200-29709200	Weak transcription	HMEC	breast
18	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
19	chr12:29695400-29696400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:29695400-29697400	Enhancers	Fetal Stomach	stomach
21	chr12:29695600-29697000	Enhancers	Fetal Brain Male	brain
22	chr12:29695800-29696400	Active TSS	Aorta	Aorta
23	chr12:29695800-29696400	Active TSS	Ovary	ovary
24	chr12:29695800-29696600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:29695800-29696800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:29695800-29696800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:29695800-29697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:29695800-29697200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:29695800-29698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:29695800-29699000	Weak transcription	Psoas Muscle	Psoas
31	chr12:29696000-29696600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:29696000-29696600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:29696000-29696600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:29696000-29696600	Active TSS	Right Atrium	heart
35	chr12:29696000-29696800	Enhancers	HSMM	muscle
36	chr12:29696200-29696600	Flanking Active TSS	Fetal Lung	lung
37	chr12:29696200-29696600	Active TSS	Stomach Smooth Muscle	stomach
38	chr12:29696200-29696600	Active TSS	NHDF-Ad	bronchial
39	chr12:29696200-29696600	Flanking Active TSS	NHLF	lung
40	chr12:29696200-29696600	Active TSS	Osteobl	bone

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