Variant report

Variant	rs72940760
Chromosome Location	chr18:29718419-29718420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29671748..29674149-chr18:29717324..29719515,2	K562	blood:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16962700	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17735362	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59911054	0.86[EUR][1000 genomes]
rs61709171	0.84[EUR][1000 genomes]
rs72940728	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72940731	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72940763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29706200-29718600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr18:29709200-29718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr18:29709600-29719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:29712000-29718600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr18:29712600-29718600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:29714200-29718600	Weak transcription	Thymus	Thymus
7	chr18:29714800-29720200	Weak transcription	Fetal Intestine Small	intestine
8	chr18:29718200-29718800	Enhancers	Liver	Liver
9	chr18:29718200-29718800	Enhancers	Stomach Mucosa	stomach
10	chr18:29718200-29719000	Enhancers	Primary T cells from cord blood	blood
11	chr18:29718200-29719000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:29718200-29719800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr18:29718400-29718600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr18:29718400-29718600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr18:29718400-29718600	Enhancers	K562	blood
16	chr18:29718400-29718800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr18:29718400-29718800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr18:29718400-29718800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr18:29718400-29718800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr18:29718400-29718800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:29718400-29719000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr18:29718400-29719400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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