Variant report

Variant	rs12245739
Chromosome Location	chr10:49906091-49906092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49905321..49907163-chr10:49908758..49910587,2	K562	blood:
2	chr10:49905425..49907287-chr10:49911171..49913733,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11101432	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11101436	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240581	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240654	1.00[CEU][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12254896	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266115	1.00[EUR][1000 genomes]
rs12267792	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011056	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17011111	0.85[YRI][hapmap]
rs17011119	1.00[CEU][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2377624	0.86[YRI][hapmap]
rs4838639	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55668791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7912944	0.86[YRI][hapmap]
rs9971048	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1049259	chr10:49901984-49924310	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr10:49895200-49906200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:49897000-49918200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr10:49900200-49908600	Weak transcription	Colonic Mucosa	Colon
4	chr10:49900400-49906600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:49900800-49906800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr10:49900800-49908800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:49901600-49907200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49902200-49907000	Weak transcription	Right Atrium	heart
9	chr10:49903400-49907400	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:49903800-49907400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:49903800-49911400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:49904200-49906800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:49904200-49907000	Strong transcription	Primary B cells from cord blood	blood
14	chr10:49904200-49909600	Genic enhancers	GM12878-XiMat	blood
15	chr10:49904400-49906800	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:49905800-49906200	Enhancers	Right Ventricle	heart
17	chr10:49905800-49907600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr10:49905800-49907600	Enhancers	Left Ventricle	heart
19	chr10:49905800-49908200	Strong transcription	Spleen	Spleen
20	chr10:49906000-49907200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr10:49906000-49907800	Enhancers	Fetal Heart	heart
22	chr10:49906000-49909000	Enhancers	Fetal Thymus	thymus

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