Variant report

Variant	rs10518836
Chromosome Location	chr15:50551855-50551856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50537821..50541238-chr15:50550138..50551900,3	MCF-7	breast:
2	chr15:50430804..50433194-chr15:50550057..50552269,2	MCF-7	breast:
3	chr15:50541134..50544254-chr15:50551601..50554134,4	MCF-7	breast:
4	chr15:50538793..50540544-chr15:50550474..50553061,2	K562	blood:
5	chr15:50543810..50547696-chr15:50549182..50555297,5	K562	blood:
6	chr15:50550697..50553408-chr15:50557673..50559523,2	MCF-7	breast:
7	chr15:50551676..50553333-chr15:50885793..50888407,2	K562	blood:
8	chr15:50548174..50551950-chr15:50645157..50647767,3	MCF-7	breast:
9	chr15:50548597..50550774-chr15:50551817..50553409,2	K562	blood:
10	chr15:50471486..50473265-chr15:50550532..50553031,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000140287	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11856059	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11857173	0.92[ASN][1000 genomes]
rs17509944	1.00[ASW][hapmap]
rs17740607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17740669	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17796788	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737093	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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10518836	SLC24A5	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50548000-50555600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:50548200-50552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:50548200-50555800	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:50548400-50553200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:50549200-50552600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50549800-50554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:50549800-50554600	Weak transcription	Spleen	Spleen
8	chr15:50550000-50552600	Weak transcription	HSMMtube	muscle
9	chr15:50550200-50555600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:50550400-50552800	Weak transcription	HSMM	muscle
11	chr15:50550800-50554000	Enhancers	Hela-S3	cervix
12	chr15:50550800-50556000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:50551400-50553800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr15:50551400-50555800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:50551600-50552200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr15:50551600-50552800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr15:50551600-50553800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr15:50551800-50552200	Flanking Active TSS	K562	blood
19	chr15:50551800-50552400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:50551800-50553400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:50551800-50554400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:50551800-50554600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:50551800-50555600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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