Variant report

Variant	rs12151011
Chromosome Location	chr19:40590063-40590064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40585350..40590753-chr19:40593407..40597851,7	K562	blood:
2	chr19:40583256..40586703-chr19:40587520..40590311,6	K562	blood:
3	chr19:40587912..40590423-chr19:40590559..40592626,2	MCF-7	breast:
4	chr19:40574588..40577442-chr19:40589363..40592016,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF546-3	chr19:40589327-40591893	ucscGeneNc_uc002nzf_1

Variant related genes	Relation type
ENSG00000197782	Chromatin interaction
ENSG00000269749	Chromatin interaction
ENSG00000269296	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11083545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12373514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589691	0.86[EUR][1000 genomes]
rs55787243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58019075	1.00[EUR][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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40578600-40590400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:40579400-40590400	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:40579600-40590800	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:40579600-40591200	Strong transcription	Fetal Thymus	thymus
5	chr19:40580600-40591000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:40581800-40595600	Weak transcription	Stomach Mucosa	stomach
7	chr19:40582000-40591200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr19:40583000-40595400	Weak transcription	NHLF	lung
9	chr19:40583200-40590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:40583200-40595400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:40583200-40595400	Weak transcription	Lung	lung
12	chr19:40583200-40595400	Weak transcription	Psoas Muscle	Psoas
13	chr19:40583200-40595400	Weak transcription	NH-A	brain
14	chr19:40583200-40596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:40583400-40595400	Weak transcription	Small Intestine	intestine
16	chr19:40583800-40590800	Strong transcription	Fetal Lung	lung
17	chr19:40583800-40595400	Weak transcription	Right Ventricle	heart
18	chr19:40584600-40590800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:40584600-40591200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr19:40584800-40591000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:40585000-40591200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:40585000-40591200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:40585200-40590200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr19:40585200-40590600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:40585200-40591000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:40585200-40591000	Strong transcription	Brain Germinal Matrix	brain
27	chr19:40585200-40591200	Strong transcription	Fetal Intestine Large	intestine
28	chr19:40585400-40591000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:40585400-40591000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:40585400-40591200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:40585600-40590200	Weak transcription	NHEK	skin
32	chr19:40585600-40590600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:40585600-40591000	Strong transcription	Adipose Nuclei	Adipose
34	chr19:40585600-40591400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:40585800-40591200	Strong transcription	Primary T cells from cord blood	blood
36	chr19:40586000-40590600	Strong transcription	Brain Anterior Caudate	brain
37	chr19:40586000-40591200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:40586200-40591000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:40586200-40591000	Strong transcription	Brain Angular Gyrus	brain
40	chr19:40586200-40591000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:40586200-40591200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:40586200-40591200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:40586200-40591200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:40586400-40590200	Strong transcription	Brain Substantia Nigra	brain
45	chr19:40586400-40590800	Strong transcription	Left Ventricle	heart
46	chr19:40586400-40591000	Strong transcription	Brain Hippocampus Middle	brain
47	chr19:40586400-40591000	Strong transcription	Fetal Muscle Leg	muscle
48	chr19:40586400-40591000	Strong transcription	Ovary	ovary
49	chr19:40586400-40591200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:40586400-40591200	Strong transcription	Aorta	Aorta

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