Variant report

Variant	rs10519258
Chromosome Location	chr15:50400050-50400051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50399552..50401174-chr15:50406779..50408570,2	K562	blood:
2	chr15:50398495..50400985-chr15:50404060..50405894,2	K562	blood:

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11070744	1.00[GIH][hapmap]
rs11070746	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[ASN][1000 genomes]
rs11070749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11635737	1.00[YRI][hapmap]
rs11853146	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17415862	1.00[LWK][hapmap]
rs2414009	1.00[GIH][hapmap]
rs3803371	0.83[GIH][hapmap];1.00[LWK][hapmap]
rs4476127	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4517729	1.00[YRI][hapmap]
rs56123457	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56757311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493395	1.00[GIH][hapmap]
rs6493399	0.85[GIH][hapmap]
rs7163415	1.00[GIH][hapmap]
rs72734895	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72734896	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	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
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50397200-50401000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:50398800-50403200	Enhancers	Primary T cells from cord blood	blood
3	chr15:50399000-50400400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:50399200-50403000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:50399200-50407200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:50399400-50400600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr15:50399400-50400600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:50399400-50401400	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:50399400-50402000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr15:50399400-50402000	Enhancers	Fetal Thymus	thymus
11	chr15:50399400-50402200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:50399400-50402200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50399400-50403800	Enhancers	Thymus	Thymus
14	chr15:50399600-50400600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:50399800-50400200	Active TSS	Primary B cells from cord blood	blood
16	chr15:50399800-50400200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr15:50399800-50400400	Flanking Active TSS	GM12878-XiMat	blood
18	chr15:50399800-50401400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:50399800-50401400	Enhancers	K562	blood
20	chr15:50399800-50401800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:50399800-50407800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:50400000-50400200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:50400000-50400800	Enhancers	Spleen	Spleen
24	chr15:50400000-50402000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:50400000-50402400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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