Variant report

Variant	rs173094
Chromosome Location	chr21:46138845-46138846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs170965	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs170966	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs173099	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs186849	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235287	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235386	0.80[ASN][1000 genomes]
rs4818956	1.00[JPT][hapmap]

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46135600-46142600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46136400-46143200	Weak transcription	Pancreas	Pancrea
3	chr21:46137800-46139000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr21:46137800-46139000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr21:46137800-46139000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46138000-46139000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:46138000-46139000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:46138000-46139000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:46138000-46139200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr21:46138200-46139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:46138400-46139000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:46138400-46139000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr21:46138400-46139000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:46138400-46139000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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