Variant report

Variant	rs61927092
Chromosome Location	chr12:66588349-66588350
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	chr12:66588124..66590296-chr12:66590579..66593345,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10878381	0.83[ASN][1000 genomes]
rs10878382	0.83[ASN][1000 genomes]
rs10878383	0.83[ASN][1000 genomes]
rs10878389	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10878391	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11176056	0.83[ASN][1000 genomes]
rs11176065	0.83[ASN][1000 genomes]
rs11176067	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11176068	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11176080	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176082	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12832926	0.83[ASN][1000 genomes]
rs17767200	0.83[ASN][1000 genomes]
rs1882201	0.83[ASN][1000 genomes]
rs1898304	0.83[ASN][1000 genomes]
rs2141709	0.83[ASN][1000 genomes]
rs2178486	0.83[ASN][1000 genomes]
rs2870781	0.83[ASN][1000 genomes]
rs34645929	0.83[ASN][1000 genomes]
rs34755483	0.83[ASN][1000 genomes]
rs56271210	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7295147	0.83[ASN][1000 genomes]
rs7302893	0.83[ASN][1000 genomes]
rs7305938	0.83[ASN][1000 genomes]
rs7966453	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7966561	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7979029	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61927092	RP11-745O10.2	cis	Whole Blood	GTEx
rs61927092	RP11-745O10.2	cis	Artery Tibial	GTEx
rs61927092	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583600-66589000	Weak transcription	Brain Substantia Nigra	brain
2	chr12:66583600-66589000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:66583600-66591400	Weak transcription	Osteobl	bone
4	chr12:66583800-66589000	Weak transcription	Placenta	Placenta
5	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
6	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:66584400-66588800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:66585000-66590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:66585000-66591000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:66585000-66591400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:66585200-66589000	Weak transcription	Right Ventricle	heart
12	chr12:66585400-66589200	Weak transcription	HUVEC	blood vessel
13	chr12:66585600-66589000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:66585600-66589000	Weak transcription	Left Ventricle	heart
15	chr12:66585600-66590400	Weak transcription	Esophagus	oesophagus
16	chr12:66585600-66590800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:66585600-66592000	Weak transcription	Right Atrium	heart
18	chr12:66585800-66589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:66585800-66590200	Weak transcription	Fetal Kidney	kidney
20	chr12:66586000-66588800	Weak transcription	Stomach Mucosa	stomach
21	chr12:66586000-66589000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:66586000-66589000	Weak transcription	Gastric	stomach
23	chr12:66586000-66589600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:66587200-66589200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:66587200-66589400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:66587200-66590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:66587400-66589400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:66587400-66591800	Enhancers	Primary B cells from cord blood	blood
29	chr12:66587600-66588800	Strong transcription	Fetal Lung	lung
30	chr12:66587600-66589000	Enhancers	GM12878-XiMat	blood
31	chr12:66587800-66589000	Strong transcription	Lung	lung
32	chr12:66587800-66589200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:66588000-66588800	Weak transcription	Spleen	Spleen
34	chr12:66588000-66590000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:66588200-66588400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
36	chr12:66588200-66588600	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:66588200-66588800	Weak transcription	Primary hematopoietic stem cells	blood

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