Variant report

Variant	rs73129036
Chromosome Location	chr5:74444362-74444363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12109939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16872437	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992589	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4605762	0.85[AMR][1000 genomes]
rs59620469	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61223734	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61406519	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61434572	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6865346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867014	0.85[AMR][1000 genomes]
rs6879223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116844	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73116860	0.85[AMR][1000 genomes]
rs73131027	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882189	chr5:74356857-74478078	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74439600-74449000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74440400-74448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74441800-74444600	Enhancers	Primary T cells from cord blood	blood
4	chr5:74441800-74444600	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:74443600-74444400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:74443600-74444600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:74443600-74444600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr5:74443600-74447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:74443800-74444400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:74443800-74444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:74443800-74444400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:74443800-74444400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:74443800-74444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:74444000-74444400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:74444000-74444400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:74444200-74444400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:74444200-74445200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:74444200-74445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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

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