Variant report

Variant	rs17230519
Chromosome Location	chr21:39799356-39799357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39796963..39799748-chr21:39804462..39806731,2	K562	blood:
2	chr11:67028622..67031232-chr21:39798788..39801234,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17230512	1.00[GIH][hapmap]
rs17815661	1.00[GIH][hapmap]
rs9976318	1.00[ASW][hapmap]
rs9977445	1.00[GIH][hapmap]

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	nsv1058886	chr21:39341560-39799638	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39772600-39803000	Weak transcription	Adipose Nuclei	Adipose
2	chr21:39781000-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:39784800-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:39785200-39808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:39786600-39803600	Strong transcription	Primary hematopoietic stem cells	blood
6	chr21:39788000-39807000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:39789800-39800000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr21:39790400-39802400	Weak transcription	Left Ventricle	heart
9	chr21:39794800-39806200	Weak transcription	Spleen	Spleen
10	chr21:39795400-39813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:39796600-39815600	Weak transcription	Gastric	stomach
12	chr21:39796800-39801000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:39796800-39802600	Weak transcription	Fetal Stomach	stomach
14	chr21:39796800-39806200	Weak transcription	Lung	lung
15	chr21:39796800-39807400	Weak transcription	Aorta	Aorta
16	chr21:39797000-39799400	Weak transcription	Fetal Heart	heart
17	chr21:39797000-39799400	Weak transcription	Thymus	Thymus
18	chr21:39797000-39810800	Weak transcription	Fetal Thymus	thymus
19	chr21:39797800-39800200	Weak transcription	Pancreas	Pancrea
20	chr21:39798000-39800400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr21:39799200-39800600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:39799200-39801200	Strong transcription	HUVEC	blood vessel

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