Variant report

Variant	rs17126718
Chromosome Location	chr12:39244595-39244596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12424853	1.00[AFR][1000 genomes]
rs12580722	1.00[AFR][1000 genomes]
rs17125570	1.00[AFR][1000 genomes]
rs17125597	1.00[AFR][1000 genomes]
rs17126242	1.00[AFR][1000 genomes]
rs17126261	1.00[AFR][1000 genomes]
rs17126711	1.00[AFR][1000 genomes]
rs17126729	1.00[AFR][1000 genomes]
rs17126731	1.00[AFR][1000 genomes]
rs17126733	1.00[AFR][1000 genomes]
rs17126734	1.00[AFR][1000 genomes]
rs17126736	1.00[AFR][1000 genomes]
rs17126737	1.00[AFR][1000 genomes]
rs17126745	1.00[AFR][1000 genomes]
rs17126747	1.00[AFR][1000 genomes]
rs7308580	1.00[AFR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39221800-39251800	Weak transcription	Liver	Liver
5	chr12:39229400-39252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:39232400-39247600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:39233200-39245800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:39238800-39271600	Weak transcription	NHEK	skin
9	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
10	chr12:39242200-39244600	Weak transcription	NHDF-Ad	bronchial
11	chr12:39242200-39245400	Weak transcription	GM12878-XiMat	blood
12	chr12:39242200-39252400	Weak transcription	Ovary	ovary
13	chr12:39242400-39248200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:39242400-39251200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:39243800-39244600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:39244000-39244600	Enhancers	Right Atrium	heart
17	chr12:39244000-39244800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:39244200-39244600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:39244200-39245000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:39244200-39252000	Weak transcription	Left Ventricle	heart
21	chr12:39244400-39244800	Enhancers	Muscle Satellite Cultured Cells	--

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