Variant report

Variant	rs73363714
Chromosome Location	chr21:41079892-41079893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16998145	0.96[EUR][1000 genomes]
rs60771767	1.00[EUR][1000 genomes]
rs73363718	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363761	0.86[EUR][1000 genomes]
rs73363764	0.86[EUR][1000 genomes]
rs73907331	0.96[EUR][1000 genomes]
rs73907332	0.96[EUR][1000 genomes]
rs73907335	0.96[EUR][1000 genomes]
rs8127743	0.93[EUR][1000 genomes]
rs8128755	0.96[EUR][1000 genomes]

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	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
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS 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	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41069000-41095000	Weak transcription	Pancreas	Pancrea
2	chr21:41075800-41101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:41078400-41081000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr21:41078400-41081000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:41078400-41081200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr21:41078600-41080400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:41078600-41080800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:41078600-41080800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:41078600-41081200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:41078600-41081200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr21:41078800-41084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:41079200-41080400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:41079400-41081400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:41079400-41081400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr21:41079400-41109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:41079600-41082000	Weak transcription	Fetal Intestine Large	intestine
17	chr21:41079600-41087400	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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