Variant report

Variant	rs17126729
Chromosome Location	chr12:39272552-39272553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12424853	1.00[AFR][1000 genomes]
rs12580722	1.00[AFR][1000 genomes]
rs17126242	1.00[AFR][1000 genomes]
rs17126261	1.00[AFR][1000 genomes]
rs17126711	1.00[AFR][1000 genomes]
rs17126718	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:27 , 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	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
4	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
6	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:39261800-39279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:39263800-39277600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:39266400-39283200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:39267400-39275600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:39268800-39275800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:39269800-39285800	Weak transcription	Osteobl	bone
13	chr12:39270600-39272800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:39271600-39272600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:39271600-39272600	Enhancers	Liver	Liver
16	chr12:39271800-39272600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:39271800-39272600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:39271800-39272800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:39271800-39297200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:39272000-39272600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:39272000-39272600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:39272200-39272600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:39272200-39272600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:39272400-39272600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr12:39272400-39272600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:39272400-39273000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:39272400-39274000	Weak transcription	A549	lung

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