Variant report

Variant	rs12608941
Chromosome Location	chr19:36692190-36692191
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	chr19:36690805..36693651-chr19:36696713..36700179,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10416729	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11673662	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12460237	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1898675	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2432040	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2432044	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2432046	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2432048	0.89[ASN][1000 genomes]
rs2432050	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432053	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2438515	0.84[ASN][1000 genomes]
rs2438516	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2910681	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2918322	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918323	0.91[EUR][1000 genomes]
rs2918325	0.93[EUR][1000 genomes]
rs2918328	0.92[EUR][1000 genomes]
rs2918376	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2918377	0.89[ASN][1000 genomes]
rs2918381	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918382	0.93[EUR][1000 genomes]
rs2918383	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2918384	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972320	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972530	0.94[EUR][1000 genomes]
rs2972533	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972534	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972535	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2972536	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2972540	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2972543	0.89[ASN][1000 genomes]
rs34912665	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4293497	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4315447	0.89[ASN][1000 genomes]
rs57614488	0.93[ASN][1000 genomes]
rs60277419	0.88[ASN][1000 genomes]
rs6510528	0.96[ASN][1000 genomes]
rs8107260	0.95[ASN][1000 genomes]
rs8107616	0.94[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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12608941	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
2	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
3	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
5	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:36674600-36704600	Weak transcription	HMEC	breast
7	chr19:36674600-36704600	Weak transcription	NH-A	brain
8	chr19:36674600-36704600	Weak transcription	NHEK	skin
9	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:36674800-36694400	Weak transcription	Fetal Heart	heart
11	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
12	chr19:36685200-36704800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:36685400-36704600	Weak transcription	HSMM	muscle
14	chr19:36685800-36699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:36685800-36704600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:36685800-36704800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:36686000-36692200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:36686000-36692600	Weak transcription	Esophagus	oesophagus
19	chr19:36686000-36692600	Weak transcription	Lung	lung
20	chr19:36686000-36692600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:36686000-36695800	Weak transcription	Ovary	ovary
22	chr19:36686000-36697000	Weak transcription	Aorta	Aorta
23	chr19:36686000-36697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:36686000-36698800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:36686000-36702800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:36686000-36703800	Weak transcription	Dnd41	blood
27	chr19:36686000-36704000	Weak transcription	Pancreas	Pancrea
28	chr19:36686000-36704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:36686000-36704600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:36686000-36704600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:36686000-36704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:36686000-36704600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:36686000-36704600	Weak transcription	Colonic Mucosa	Colon
34	chr19:36686000-36704600	Weak transcription	Gastric	stomach
35	chr19:36686000-36704600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:36686000-36704600	Weak transcription	Spleen	Spleen
37	chr19:36686000-36704600	Weak transcription	Osteobl	bone
38	chr19:36686000-36704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:36686000-36704800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:36686000-36704800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:36686000-36704800	Weak transcription	Placenta	Placenta
42	chr19:36686000-36704800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:36686000-36704800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:36686000-36704800	Weak transcription	Thymus	Thymus
45	chr19:36686200-36692200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:36686200-36692200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:36686200-36692400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:36686200-36692600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:36686200-36692600	Weak transcription	Fetal Brain Female	brain
50	chr19:36686200-36692600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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