Variant report

Variant	rs1029972
Chromosome Location	chr4:15438782-15438783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15437132..15438963-chr4:15440613..15442716,2	K562	blood:
2	chr4:15434969..15437735-chr4:15437864..15439477,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1024757	0.89[EUR][1000 genomes]
rs10939618	0.82[EUR][1000 genomes]
rs1990525	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2252240	0.82[AMR][1000 genomes]
rs2465500	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs973628	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 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	chr4:15431400-15443800	Weak transcription	Aorta	Aorta
2	chr4:15436400-15439600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:15436400-15440600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:15436600-15440400	Weak transcription	NHDF-Ad	bronchial
5	chr4:15437200-15438800	Enhancers	Fetal Lung	lung
6	chr4:15437200-15439000	Enhancers	Fetal Brain Female	brain
7	chr4:15437400-15439000	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:15437600-15440600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:15437800-15438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:15438000-15438800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:15438000-15440600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:15438200-15440600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:15438200-15452400	Weak transcription	Left Ventricle	heart
14	chr4:15438200-15452600	Weak transcription	Fetal Kidney	kidney
15	chr4:15438400-15439400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:15438400-15440400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:15438400-15440400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:15438400-15440600	Weak transcription	Osteobl	bone
19	chr4:15438400-15440800	Weak transcription	HSMM	muscle
20	chr4:15438400-15443800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:15438400-15444000	Weak transcription	Ovary	ovary
22	chr4:15438400-15444400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:15438400-15446200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:15438400-15458800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:15438600-15440600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:15438600-15442400	Weak transcription	Fetal Stomach	stomach
27	chr4:15438600-15444000	Weak transcription	Stomach Smooth Muscle	stomach

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