Variant report

Variant	rs12373514
Chromosome Location	chr19:40518599-40518600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
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]
rs12151011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151029	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151197	1.00[CEU][hapmap];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:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
2	chr19:40504000-40519600	Weak transcription	Fetal Brain Male	brain
3	chr19:40504000-40519600	Weak transcription	Hela-S3	cervix
4	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
6	chr19:40512000-40519200	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
8	chr19:40512200-40518600	Strong transcription	Brain Anterior Caudate	brain
9	chr19:40512600-40519600	Weak transcription	Colonic Mucosa	Colon
10	chr19:40513400-40518800	Strong transcription	Brain Cingulate Gyrus	brain
11	chr19:40513400-40521800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:40513600-40522200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:40514000-40523000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:40514800-40519600	Weak transcription	Right Ventricle	heart
15	chr19:40515000-40519000	Weak transcription	HepG2	liver
16	chr19:40515000-40519400	Weak transcription	Fetal Intestine Large	intestine
17	chr19:40515200-40519200	Weak transcription	HSMMtube	muscle
18	chr19:40515200-40519600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:40515200-40519800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:40515200-40519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:40515200-40519800	Weak transcription	Pancreas	Pancrea
22	chr19:40515200-40519800	Weak transcription	Thymus	Thymus
23	chr19:40515400-40519000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr19:40515400-40519000	Weak transcription	NHDF-Ad	bronchial
25	chr19:40515400-40519600	Weak transcription	K562	blood
26	chr19:40515400-40521600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:40515600-40519600	Weak transcription	Fetal Heart	heart
28	chr19:40515600-40520000	Weak transcription	Brain Germinal Matrix	brain
29	chr19:40515600-40522200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:40516000-40519200	Weak transcription	Fetal Kidney	kidney
31	chr19:40516000-40519400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:40516000-40519400	Weak transcription	HSMM	muscle
33	chr19:40516000-40519400	Weak transcription	Osteobl	bone
34	chr19:40516000-40519600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:40516000-40519600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:40516000-40519600	Strong transcription	Dnd41	blood
37	chr19:40516200-40519200	Weak transcription	Fetal Brain Female	brain
38	chr19:40516200-40519600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:40516200-40519800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:40516400-40518600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr19:40516600-40519000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:40516800-40520400	Weak transcription	Fetal Stomach	stomach
43	chr19:40517400-40521400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:40517400-40522800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:40517600-40518800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:40517600-40521200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr19:40517600-40521600	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr19:40517600-40521800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr19:40517600-40521800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:40517600-40522200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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