Variant report

Variant	rs28712705
Chromosome Location	chr11:113247738-113247739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:113236279..113238719-chr11:113247616..113250080,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10502173	0.88[EUR][1000 genomes]
rs1055076	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10891541	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10891542	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10891543	0.81[ASN][1000 genomes]
rs10891545	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11214592	0.86[ASN][1000 genomes]
rs11214598	0.80[ASN][1000 genomes]
rs1124492	0.90[ASN][1000 genomes]
rs12224538	0.94[ASN][1000 genomes]
rs12225351	0.90[EUR][1000 genomes]
rs12285457	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12292113	0.90[EUR][1000 genomes]
rs12293753	0.90[EUR][1000 genomes]
rs1943622	0.90[EUR][1000 genomes]
rs2187346	0.90[EUR][1000 genomes]
rs2276070	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2288159	0.89[EUR][1000 genomes]
rs3897584	0.81[ASN][1000 genomes]
rs4590907	0.94[ASN][1000 genomes]
rs4601821	0.81[ASN][1000 genomes]
rs4938007	0.90[EUR][1000 genomes]
rs4938010	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4938011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938014	0.94[ASN][1000 genomes]
rs4938016	0.80[ASN][1000 genomes]
rs61492892	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6589372	0.90[EUR][1000 genomes]
rs6589373	0.90[EUR][1000 genomes]
rs7109196	0.90[EUR][1000 genomes]
rs7122228	0.80[ASN][1000 genomes]
rs713233	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs719803	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73557236	0.82[ASN][1000 genomes]
rs7928201	0.90[EUR][1000 genomes]
rs7928978	0.90[EUR][1000 genomes]
rs7931066	0.90[EUR][1000 genomes]
rs7949242	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs877138	0.81[ASN][1000 genomes]
rs948176	0.90[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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28712705	TTC12	cis	multi-tissue	Pritchard
rs28712705	TTC12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113203200-113248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:113232200-113257400	Weak transcription	Small Intestine	intestine
3	chr11:113236400-113248200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:113236800-113248400	Weak transcription	Placenta	Placenta
5	chr11:113238000-113248200	Weak transcription	Thymus	Thymus
6	chr11:113239400-113248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:113239400-113248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:113239400-113248800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:113239400-113251600	Weak transcription	Aorta	Aorta
10	chr11:113239600-113248200	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:113240000-113248400	Weak transcription	Pancreas	Pancrea
12	chr11:113240200-113248200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:113240200-113258400	Weak transcription	Spleen	Spleen
14	chr11:113240800-113255800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:113241800-113248200	Weak transcription	Fetal Stomach	stomach
16	chr11:113241800-113257800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:113242000-113253000	Weak transcription	Brain Substantia Nigra	brain
18	chr11:113244200-113255800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:113244400-113248200	Weak transcription	HSMMtube	muscle
20	chr11:113244400-113256400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:113244600-113248200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:113244600-113248200	Weak transcription	NHDF-Ad	bronchial
23	chr11:113244600-113248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:113244600-113254600	Weak transcription	HSMM	muscle
25	chr11:113244800-113247800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:113244800-113247800	Weak transcription	NHEK	skin
27	chr11:113244800-113248000	Weak transcription	NH-A	brain
28	chr11:113244800-113257400	Weak transcription	Lung	lung
29	chr11:113245000-113247800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:113245000-113247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:113245600-113254200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:113246200-113248000	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:113246400-113249400	Enhancers	Fetal Heart	heart
34	chr11:113247000-113248400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:113247400-113249400	Enhancers	Fetal Brain Male	brain
36	chr11:113247400-113250000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:113247600-113248600	Enhancers	Fetal Thymus	thymus
38	chr11:113247600-113249400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:113247600-113250000	Enhancers	HMEC	breast

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