Variant report

Variant	rs17004700
Chromosome Location	chr21:46180556-46180557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2016874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2838674	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46171400-46183400	Weak transcription	Gastric	stomach
3	chr21:46173000-46180800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46179000-46183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:46179600-46184600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46179800-46182000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr21:46180000-46180600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46180000-46180800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46180000-46181800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr21:46180200-46181600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr21:46180400-46181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:46180400-46181200	Bivalent Enhancer	HepG2	liver
13	chr21:46180400-46181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:46180400-46182000	Enhancers	Fetal Muscle Leg	muscle
15	chr21:46180400-46182600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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