Variant report

Variant	rs10748469
Chromosome Location	chr12:47750722-47750723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785674	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10785676	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10881095	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881097	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10881099	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11183899	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183919	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12302802	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1421355	0.87[EUR][1000 genomes]
rs4768802	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58058166	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6582705	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6582706	0.80[AMR][1000 genomes]
rs7956037	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7966682	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967683	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969338	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886260	0.86[EUR][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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47744600-47753800	Weak transcription	Fetal Thymus	thymus
2	chr12:47748000-47752000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:47748800-47751600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47749000-47751000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:47749200-47750800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:47749200-47750800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:47749200-47751000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:47749200-47751200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:47749200-47751200	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:47749200-47752400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:47749200-47752400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:47749600-47751000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:47749600-47751200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:47749800-47750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47749800-47750800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47750000-47751000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:47750000-47751000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:47750200-47751000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:47750200-47751800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:47750200-47754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:47750400-47750800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:47750400-47750800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:47750400-47751800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:47750400-47752200	Enhancers	Primary B cells from cord blood	blood
25	chr12:47750400-47754000	Weak transcription	K562	blood
26	chr12:47750400-47754400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:47750600-47750800	Enhancers	GM12878-XiMat	blood
28	chr12:47750600-47753000	Weak transcription	Primary T cells from cord blood	blood
29	chr12:47750600-47753000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:47750600-47753000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:47750600-47753800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:47750600-47754600	Weak transcription	Spleen	Spleen

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