Variant report

Variant	rs4817947
Chromosome Location	chr21:39833569-39833570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39831468..39833769-chr21:39834238..39836562,2	MCF-7	breast:
2	chr21:39832529..39834074-chr21:39834423..39835958,2	MCF-7	breast:
3	chr21:39825863..39829092-chr21:39829816..39833688,5	MCF-7	breast:
4	chr21:39825415..39827959-chr21:39832760..39834789,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2186346	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836416	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836417	0.84[ASN][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	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr21:39811200-39847400	Weak transcription	Right Ventricle	heart
2	chr21:39812800-39844600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:39821200-39836400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:39829600-39833600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr21:39830400-39833600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:39831000-39833600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:39831000-39833600	Enhancers	HMEC	breast
8	chr21:39831200-39837800	Weak transcription	Aorta	Aorta
9	chr21:39832000-39833600	Genic enhancers	Primary hematopoietic stem cells	blood
10	chr21:39832000-39833600	Enhancers	Left Ventricle	heart
11	chr21:39832000-39833600	Enhancers	Spleen	Spleen
12	chr21:39832200-39833600	Enhancers	Adipose Nuclei	Adipose
13	chr21:39832200-39834800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:39832200-39839200	Weak transcription	Fetal Thymus	thymus
15	chr21:39832600-39833600	Flanking Active TSS	HUVEC	blood vessel
16	chr21:39832800-39833600	Enhancers	NHEK	skin
17	chr21:39832800-39834800	Weak transcription	Lung	lung
18	chr21:39832800-39835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:39832800-39836400	Weak transcription	Fetal Stomach	stomach
20	chr21:39833000-39833600	Enhancers	Right Atrium	heart
21	chr21:39833000-39834800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr21:39833000-39836000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:39833200-39834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:39833200-39842800	Weak transcription	Esophagus	oesophagus
25	chr21:39833400-39833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:39833400-39833600	Enhancers	Fetal Muscle Leg	muscle
27	chr21:39833400-39838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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