Variant report

Variant	rs11894300
Chromosome Location	chr2:38889033-38889034
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	chr2:38888499..38891196-chr2:38892046..38897483,5	K562	blood:
2	chr2:38887947..38890064-chr2:38891296..38894559,3	K562	blood:

Variant related genes	Relation type
ENSG00000143891	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12105066	1.00[AMR][1000 genomes]
rs17023010	1.00[AMR][1000 genomes]
rs57091543	1.00[AMR][1000 genomes]
rs59492432	1.00[AMR][1000 genomes]
rs61048190	1.00[AMR][1000 genomes]
rs73929028	1.00[AMR][1000 genomes]
rs73929071	1.00[AMR][1000 genomes]
rs73929074	1.00[AMR][1000 genomes]
rs73929083	1.00[AMR][1000 genomes]
rs73929101	1.00[AMR][1000 genomes]
rs73931607	1.00[AMR][1000 genomes]
rs7591739	1.00[AMR][1000 genomes]
rs7605576	1.00[AMR][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	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	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38882200-38889800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:38882200-38892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:38882800-38891200	Weak transcription	K562	blood
4	chr2:38882800-38892800	Weak transcription	Thymus	Thymus
5	chr2:38883000-38889600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:38886200-38889800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:38886600-38889800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:38886600-38890200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:38886600-38890400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:38886600-38892200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:38886800-38890200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:38886800-38890600	Weak transcription	GM12878-XiMat	blood
13	chr2:38887600-38892600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:38887800-38890600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:38888400-38892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:38888800-38890800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:38888800-38891000	Weak transcription	Osteobl	bone
18	chr2:38888800-38891200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:38888800-38892800	Weak transcription	HSMMtube	muscle
20	chr2:38889000-38890800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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