Variant report

Variant	rs11054605
Chromosome Location	chr12:12165726-12165727
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	chr12:12149372..12151111-chr12:12165624..12167252,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10505760	0.90[EUR][1000 genomes]
rs10505761	0.90[EUR][1000 genomes]
rs10845449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054620	0.88[EUR][1000 genomes]
rs1124833	0.90[EUR][1000 genomes]
rs12830229	0.89[EUR][1000 genomes]
rs33910264	0.90[EUR][1000 genomes]
rs34536892	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35279937	0.90[EUR][1000 genomes]
rs35395338	0.90[EUR][1000 genomes]
rs67444818	0.91[EUR][1000 genomes]
rs7133512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71457113	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71457114	0.90[EUR][1000 genomes]
rs7300879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313230	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7486349	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11054605	GPRC5D	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12162200-12165800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:12163600-12171600	Weak transcription	Gastric	stomach
3	chr12:12163800-12165800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:12163800-12169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:12163800-12169600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:12163800-12171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12164000-12165800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:12164000-12166200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:12164000-12169000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:12164000-12171400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:12164200-12165800	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:12164200-12165800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:12164200-12169800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:12164200-12171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:12164400-12166000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:12164400-12168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:12164400-12169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:12164400-12169400	Weak transcription	Fetal Heart	heart
19	chr12:12164400-12169600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:12164400-12171000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:12164400-12171200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:12164600-12166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:12164600-12166000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:12164600-12166000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:12164600-12166400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:12164600-12168200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:12164600-12168200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:12164600-12168400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:12164600-12169200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:12164600-12169200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:12164600-12169200	Weak transcription	Lung	lung
32	chr12:12164600-12169200	Weak transcription	Osteobl	bone
33	chr12:12164600-12169400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:12164600-12169400	Weak transcription	HMEC	breast
35	chr12:12164600-12169600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:12164600-12169600	Weak transcription	NH-A	brain
37	chr12:12164600-12171200	Weak transcription	Right Atrium	heart
38	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:12164800-12166600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:12164800-12167800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:12164800-12168000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:12164800-12168200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:12164800-12169000	Weak transcription	HSMMtube	muscle
44	chr12:12164800-12169200	Weak transcription	Thymus	Thymus
45	chr12:12164800-12169200	Weak transcription	HSMM	muscle
46	chr12:12164800-12169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:12164800-12169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:12164800-12169400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:12164800-12169400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:12164800-12169400	Weak transcription	Spleen	Spleen

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