Variant report

Variant	rs2240765
Chromosome Location	chr12:4677794-4677795
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	chr12:4650790..4653487-chr12:4676883..4679720,2	K562	blood:
2	chr12:4677609..4679805-chr12:4680922..4683723,3	K562	blood:

Variant related genes	Relation type
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10849093	0.86[ASN][1000 genomes]
rs10849096	0.93[ASN][1000 genomes]
rs11063234	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11063235	0.91[ASN][1000 genomes]
rs11063237	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11063240	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11063242	0.87[ASN][1000 genomes]
rs12368152	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424658	0.91[ASN][1000 genomes]
rs28698988	0.83[ASN][1000 genomes]
rs3815360	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7957831	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4670200-4679600	Weak transcription	Hela-S3	cervix
2	chr12:4670400-4679200	Weak transcription	A549	lung
3	chr12:4671800-4680400	Weak transcription	HUVEC	blood vessel
4	chr12:4671800-4683400	Weak transcription	Thymus	Thymus
5	chr12:4672000-4680000	Weak transcription	Brain Anterior Caudate	brain
6	chr12:4672000-4682600	Weak transcription	Spleen	Spleen
7	chr12:4672400-4685000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:4672800-4679600	Weak transcription	Fetal Thymus	thymus
9	chr12:4672800-4680000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:4673400-4692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:4673600-4678000	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:4675400-4680000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:4675800-4684000	Weak transcription	Lung	lung
14	chr12:4676000-4679000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:4676800-4678200	Strong transcription	Dnd41	blood
16	chr12:4677000-4677800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:4677000-4678200	Enhancers	GM12878-XiMat	blood
18	chr12:4677200-4679000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:4677400-4681000	Weak transcription	K562	blood
20	chr12:4677600-4678600	Enhancers	Primary B cells from cord blood	blood
21	chr12:4677600-4679000	Enhancers	Monocytes-CD14+_RO01746	blood

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