Variant report

Variant	rs55992451
Chromosome Location	chr2:38883610-38883611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38881075..38882966-chr2:38882998..38885867,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13427352	0.83[EUR][1000 genomes]
rs17022876	0.84[EUR][1000 genomes]
rs17022893	0.92[EUR][1000 genomes]
rs17022908	0.92[EUR][1000 genomes]
rs17022951	0.92[EUR][1000 genomes]
rs17022999	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278359	0.92[EUR][1000 genomes]
rs56131922	0.87[ASN][1000 genomes]
rs58563643	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58917023	0.80[ASN][1000 genomes]
rs59036182	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6706212	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6751824	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72907944	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72909820	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73930139	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73931608	0.92[EUR][1000 genomes]
rs7581419	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7586285	0.87[ASN][1000 genomes]
rs7594594	0.92[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv2760617	chr2:38873799-38886391	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38878200-38888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:38881800-38885800	Weak transcription	GM12878-XiMat	blood
3	chr2:38882000-38884000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:38882000-38887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:38882200-38886000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:38882200-38889800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:38882200-38892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:38882400-38885600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:38882400-38885600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:38882400-38887600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:38882800-38884800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:38882800-38885600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:38882800-38891200	Weak transcription	K562	blood
14	chr2:38882800-38892800	Weak transcription	Thymus	Thymus
15	chr2:38883000-38884000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:38883000-38889600	Weak transcription	Primary T cells fromperipheralblood	blood

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