Variant report

Variant	rs5164
Chromosome Location	chr19:45448070-45448071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45447911-45448188	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45406430..45407977-chr19:45445993..45448710,2	K562	blood:
2	chr19:45444327..45448309-chr19:45456781..45460381,5	K562	blood:
3	chr19:45441969..45444512-chr19:45446313..45448953,2	K562	blood:
4	chr19:45428614..45431090-chr19:45445301..45448167,2	K562	blood:
5	chr19:45406430..45412448-chr19:45445993..45451546,6	K562	blood:

No data

Variant related genes	Relation type
APOC2	TF binding region
ENSG00000104853	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000214855	Chromatin interaction
ENSG00000130203	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10416628	1.00[CHB][hapmap]
rs10425380	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs1081101	1.00[CHB][hapmap]
rs28399630	1.00[CHB][hapmap]
rs4803794	1.00[MEX][hapmap]
rs9282609	1.00[ASW][hapmap]
rs9967601	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv3347246	chr19:45423830-45452348	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv912140	chr19:45434874-45451721	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45430600-45449000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:45431000-45454600	Weak transcription	Esophagus	oesophagus
3	chr19:45439200-45456800	Weak transcription	Colonic Mucosa	Colon
4	chr19:45439400-45451800	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:45439400-45451800	Weak transcription	Brain Substantia Nigra	brain
6	chr19:45439400-45453800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:45439400-45457000	Weak transcription	Gastric	stomach
8	chr19:45439600-45448600	Weak transcription	Fetal Intestine Small	intestine
9	chr19:45439600-45448800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:45439800-45448600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:45440000-45450600	Weak transcription	Spleen	Spleen
12	chr19:45442400-45448800	Enhancers	HepG2	liver
13	chr19:45442400-45453600	Weak transcription	Brain Angular Gyrus	brain
14	chr19:45444600-45452400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:45445600-45449800	Weak transcription	Fetal Stomach	stomach
16	chr19:45445600-45452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:45445800-45450400	Weak transcription	Fetal Brain Female	brain
18	chr19:45445800-45452800	Weak transcription	Lung	lung
19	chr19:45445800-45453000	Weak transcription	Brain Anterior Caudate	brain
20	chr19:45445800-45454600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:45445800-45457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:45445800-45457600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:45446000-45456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:45446800-45449000	Flanking Active TSS	Liver	Liver
25	chr19:45447400-45448200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:45447400-45448200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:45447400-45448200	Enhancers	K562	blood
28	chr19:45447400-45452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:45447400-45452400	Weak transcription	Ovary	ovary
30	chr19:45447400-45452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:45447400-45453000	Weak transcription	Placenta	Placenta
32	chr19:45447400-45453000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:45447400-45453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:45447400-45454000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:45447400-45454400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:45447400-45454400	Weak transcription	Right Ventricle	heart
37	chr19:45447400-45456800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:45447400-45456800	Weak transcription	Primary B cells from cord blood	blood
39	chr19:45447400-45457000	Weak transcription	HMEC	breast
40	chr19:45447400-45457200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:45447600-45448800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:45447600-45448800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr19:45447600-45451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:45447600-45451600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:45447600-45451600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr19:45447600-45451600	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:45447600-45452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:45447600-45452400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:45447600-45452800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:45447600-45453000	Weak transcription	Adipose Nuclei	Adipose

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