Variant report

Variant	rs10180775
Chromosome Location	chr2:38886195-38886196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38884843..38887789-chr2:38891442..38893148,3	K562	blood:
2	chr2:38885587..38887853-chr2:38899789..38902113,2	K562	blood:

Variant related genes	Relation type
ENSG00000143891	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10165289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10186448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194503	0.93[AFR][1000 genomes]
rs13382974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396461	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399254	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13420732	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13421894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023037	1.00[EUR][1000 genomes]
rs17023042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023045	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17425982	1.00[EUR][1000 genomes]
rs28473018	1.00[EUR][1000 genomes]
rs28499207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3099973	1.00[EUR][1000 genomes]
rs3099986	1.00[EUR][1000 genomes]
rs3099996	1.00[EUR][1000 genomes]
rs3112145	1.00[EUR][1000 genomes]
rs3112146	1.00[EUR][1000 genomes]
rs3112148	1.00[EUR][1000 genomes]
rs3112155	1.00[EUR][1000 genomes]
rs3112157	1.00[EUR][1000 genomes]
rs3112158	1.00[EUR][1000 genomes]
rs3112160	1.00[EUR][1000 genomes]
rs6752602	0.86[AFR][1000 genomes]
rs7564672	1.00[AMR][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:15 , 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	chr2:38882000-38887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:38882200-38889800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:38882200-38892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:38882400-38887600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:38882800-38891200	Weak transcription	K562	blood
7	chr2:38882800-38892800	Weak transcription	Thymus	Thymus
8	chr2:38883000-38889600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:38884000-38886800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:38884800-38886600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:38885600-38886200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:38885600-38886600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:38885600-38886600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:38885800-38886200	Enhancers	GM12878-XiMat	blood
15	chr2:38886000-38886600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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