Variant report

Variant	rs57469640
Chromosome Location	chr4:120291308-120291309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10006040	0.85[AFR][1000 genomes]
rs10012406	1.00[AFR][1000 genomes]
rs10028634	0.93[AFR][1000 genomes]
rs11098518	0.93[AFR][1000 genomes]
rs11098519	0.93[AFR][1000 genomes]
rs11098520	0.93[AFR][1000 genomes]
rs28399227	0.93[AFR][1000 genomes]
rs28510336	0.85[AFR][1000 genomes]
rs28590285	0.93[AFR][1000 genomes]
rs28619175	1.00[AFR][1000 genomes]
rs28622207	0.93[AFR][1000 genomes]
rs55905129	0.93[AFR][1000 genomes]
rs58691470	1.00[AFR][1000 genomes]
rs59116083	0.93[AFR][1000 genomes]
rs72914446	0.85[AFR][1000 genomes]
rs72914498	0.85[AFR][1000 genomes]
rs72918555	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv879841	chr4:120244085-120388406	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2538163	chr4:120252854-120388678	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
2	chr4:120285400-120291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:120288400-120291400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:120288400-120291400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:120288400-120291600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:120290800-120291600	Active TSS	HepG2	liver
7	chr4:120291000-120291800	Enhancers	Primary T cells from cord blood	blood
8	chr4:120291000-120292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:120291000-120292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:120291200-120292400	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:120291200-120292600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:120291200-120292800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:120291200-120292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr4:120291200-120293800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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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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