Variant report

Variant	rs73921591
Chromosome Location	chr2:31437422-31437423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56404374	1.00[AFR][1000 genomes]
rs57748606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61545713	0.83[AFR][1000 genomes]
rs73921566	1.00[AMR][1000 genomes]
rs73921567	1.00[AMR][1000 genomes]
rs73921575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921578	1.00[AFR][1000 genomes]
rs73921579	1.00[AFR][1000 genomes]
rs73921580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921582	1.00[AFR][1000 genomes]
rs73921583	1.00[AFR][1000 genomes]
rs73921584	1.00[AFR][1000 genomes]
rs73921587	1.00[AFR][1000 genomes]
rs73921589	1.00[AFR][1000 genomes]
rs73921592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921593	1.00[AFR][1000 genomes]
rs73921595	1.00[AMR][1000 genomes]
rs73921597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921598	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873776	chr2:31384009-31439443	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1010164	chr2:31436026-31439821	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31424200-31437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:31430200-31441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:31435800-31439800	Enhancers	GM12878-XiMat	blood
4	chr2:31436200-31440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:31436400-31441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:31436400-31442200	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:31436600-31438600	Enhancers	Dnd41	blood
8	chr2:31436800-31438000	Enhancers	Fetal Thymus	thymus
9	chr2:31436800-31441800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:31436800-31442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
12	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:31437000-31437800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:31437000-31438000	Enhancers	Primary T cells from cord blood	blood
16	chr2:31437000-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:31437200-31437800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:31437200-31438000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:31437400-31438400	Active TSS	Esophagus	oesophagus
20	chr2:31437400-31439000	Weak transcription	Fetal Heart	heart

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