Variant report

Variant	rs74149074
Chromosome Location	chr1:239621277-239621278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16838358	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16838359	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16838363	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2354395	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2354400	0.90[EUR][1000 genomes]
rs58291256	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58463672	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58716948	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60374536	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61595023	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61834689	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834709	1.00[EUR][1000 genomes]
rs61834710	1.00[EUR][1000 genomes]
rs61834711	0.85[EUR][1000 genomes]
rs61834712	0.95[EUR][1000 genomes]
rs61834713	0.85[EUR][1000 genomes]
rs61834714	0.95[EUR][1000 genomes]
rs61834716	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834717	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834718	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834720	1.00[EUR][1000 genomes]
rs61834721	1.00[EUR][1000 genomes]
rs61834722	1.00[EUR][1000 genomes]
rs61834723	1.00[EUR][1000 genomes]
rs6661441	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6666589	1.00[EUR][1000 genomes]
rs6669508	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6681143	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6693126	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7513717	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7517458	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519143	1.00[EUR][1000 genomes]
rs7551209	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1006640	chr1:239290853-239658788	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535358	chr1:239290853-239658788	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3373454	chr1:239495349-239670615	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873350	chr1:239498915-239648140	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv833037	chr1:239522168-239699412	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:239614400-239625000	Weak transcription	Ovary	ovary
2	chr1:239620400-239635800	Weak transcription	Gastric	stomach
3	chr1:239620800-239622400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:239620800-239622600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:239621000-239621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:239621000-239621800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:239621000-239622200	Enhancers	Primary T cells from cord blood	blood
8	chr1:239621200-239621400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:239621200-239621400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:239621200-239621600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:239621200-239621800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:239621200-239621800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:239621200-239621800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:239621200-239622400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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