Variant report

Variant	rs12982693
Chromosome Location	chr19:19778566-19778567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19778527-19780718	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
2	chr19:19702026..19704512-chr19:19777801..19779336,2	MCF-7	breast:

Variant related genes	Relation type
ATP13A1	TF binding region
ZNF101	TF binding region
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs33967144	1.00[EUR][1000 genomes]
rs74181158	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19774200-19779000	Weak transcription	Fetal Heart	heart
2	chr19:19774800-19779000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19775200-19778800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:19775200-19778800	Weak transcription	HUVEC	blood vessel
5	chr19:19775200-19779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:19775200-19779000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:19775200-19779000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:19775200-19779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:19775200-19779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:19775200-19779000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:19775200-19779000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:19775200-19779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:19775200-19779000	Weak transcription	Brain Angular Gyrus	brain
14	chr19:19775200-19779000	Weak transcription	Brain Anterior Caudate	brain
15	chr19:19775200-19779000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:19775200-19779000	Weak transcription	Brain Germinal Matrix	brain
17	chr19:19775200-19779000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19775200-19779000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:19775200-19779000	Weak transcription	Colonic Mucosa	Colon
20	chr19:19775200-19779000	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:19775200-19779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:19775200-19779000	Weak transcription	Fetal Brain Male	brain
23	chr19:19775200-19779000	Weak transcription	Fetal Brain Female	brain
24	chr19:19775200-19779000	Weak transcription	Fetal Stomach	stomach
25	chr19:19775200-19779000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:19775200-19779000	Weak transcription	Psoas Muscle	Psoas
27	chr19:19775200-19779000	Weak transcription	Right Ventricle	heart
28	chr19:19775200-19779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:19775200-19779000	Weak transcription	HSMMtube	muscle
30	chr19:19775200-19779000	Weak transcription	NH-A	brain
31	chr19:19775200-19779000	Weak transcription	NHLF	lung
32	chr19:19775200-19779200	Weak transcription	Stomach Mucosa	stomach
33	chr19:19775200-19779200	Weak transcription	A549	lung
34	chr19:19775200-19779200	Weak transcription	NHDF-Ad	bronchial
35	chr19:19775400-19778800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:19775400-19778800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:19775400-19778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:19775400-19779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:19775400-19779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:19775400-19779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:19775400-19779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:19775400-19779000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:19775400-19779000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr19:19775400-19779000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:19775400-19779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:19775400-19779000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:19775400-19779000	Weak transcription	Fetal Muscle Leg	muscle
48	chr19:19775400-19779000	Weak transcription	Left Ventricle	heart
49	chr19:19775400-19779000	Weak transcription	Right Atrium	heart
50	chr19:19775400-19779000	Weak transcription	Stomach Smooth Muscle	stomach

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