Variant report

Variant	rs76747482
Chromosome Location	chr21:40885320-40885321
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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
2	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr21:40874800-40887000	Weak transcription	Aorta	Aorta
4	chr21:40875200-40890400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:40875400-40890200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:40875400-40890400	Weak transcription	Fetal Lung	lung
7	chr21:40875800-40895200	Weak transcription	Brain Substantia Nigra	brain
8	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:40876400-40887600	Weak transcription	Left Ventricle	heart
10	chr21:40876400-40894600	Weak transcription	Gastric	stomach
11	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:40877000-40891000	Weak transcription	Pancreas	Pancrea
13	chr21:40877200-40887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:40878200-40889800	Weak transcription	Primary T cells from cord blood	blood
16	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:40883000-40885400	Enhancers	Fetal Heart	heart
18	chr21:40883200-40887800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:40883400-40890400	Weak transcription	Fetal Kidney	kidney
20	chr21:40884400-40886400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:40884600-40887600	Weak transcription	Brain Anterior Caudate	brain
22	chr21:40885000-40885600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr21:40885000-40886000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:40885200-40885400	Enhancers	Fetal Brain Female	brain
25	chr21:40885200-40888200	Enhancers	Fetal Brain Male	brain

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