Variant report

Variant	rs12412647
Chromosome Location	chr10:49984302-49984303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11101474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11101496	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11101498	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11101507	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12217489	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12219280	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12220783	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12411976	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12572455	1.00[ASW][hapmap]
rs17836435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17836512	1.00[CEU][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap]
rs2127589	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3750864	1.00[CEU][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap]
rs41282009	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41282011	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57839743	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58293991	0.97[ASN][1000 genomes]
rs60048486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv895374	chr10:49969556-49990081	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49969400-49989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:49977000-49990400	Weak transcription	Fetal Brain Male	brain
5	chr10:49979200-49984600	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:49979400-49989200	Strong transcription	Primary hematopoietic stem cells	blood
7	chr10:49979600-49990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:49979800-49991000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:49979800-49992400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:49980000-49990400	Weak transcription	Right Atrium	heart
11	chr10:49981200-49991000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
13	chr10:49981800-49989000	Strong transcription	GM12878-XiMat	blood
14	chr10:49982000-49992200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:49982400-49991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49982400-50000800	Weak transcription	Fetal Thymus	thymus
17	chr10:49982600-49988800	Strong transcription	Spleen	Spleen
18	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:49983000-49984400	Enhancers	Fetal Stomach	stomach
20	chr10:49983000-49986000	Weak transcription	Lung	lung
21	chr10:49983600-49985800	Enhancers	Fetal Lung	lung
22	chr10:49984000-49984600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:49984000-49984600	Enhancers	K562	blood
24	chr10:49984000-49985400	Enhancers	Right Ventricle	heart
25	chr10:49984200-49985200	Enhancers	Fetal Muscle Trunk	muscle

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