Variant report

Variant	rs563866078
Chromosome Location	chr19:40020574-40020575
allele	A/C
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:6)
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	chr19:40020482-40020802	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
2	chr19:39925397..39928122-chr19:40019873..40021401,2	K562	blood:
3	chr19:39881003..39882919-chr19:40020303..40023234,2	K562	blood:
4	chr19:39988746..39992361-chr19:40020493..40024366,5	MCF-7	breast:
5	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
6	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:

No data

Variant related genes	Relation type
TDGF1P7	TF binding region
ENSG00000269792	TF binding region
ENSG00000063322	Chromatin interaction
ENSG00000176396	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000105193	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv960762	chr19:40006922-40023016	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv911694	chr19:40015907-40031369	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv137930	chr19:40019489-40027856	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40006600-40022800	Weak transcription	Lung	lung
2	chr19:40007000-40022400	Weak transcription	Right Ventricle	heart
3	chr19:40008000-40022200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:40009400-40021200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:40009800-40022200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:40009800-40022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:40009800-40022600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40009800-40022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:40010000-40022200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:40010000-40022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:40010000-40022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:40010000-40022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:40010200-40022400	Weak transcription	Fetal Muscle Leg	muscle
14	chr19:40011000-40022000	Weak transcription	Fetal Thymus	thymus
15	chr19:40011200-40021200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:40011200-40022200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:40011200-40022400	Weak transcription	Fetal Kidney	kidney
18	chr19:40011400-40020600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:40011600-40022200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:40011800-40021200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:40012000-40022000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:40012000-40022200	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:40012000-40022200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:40012200-40022200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:40012400-40022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:40012600-40022400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:40012600-40022400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:40012600-40022600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:40013000-40021600	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:40013000-40021600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:40013000-40022200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:40013200-40021800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:40013200-40022400	Weak transcription	Thymus	Thymus
34	chr19:40014200-40021600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:40014200-40022400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:40015200-40021200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:40015400-40021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:40015400-40021600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:40015400-40021600	Weak transcription	HepG2	liver
40	chr19:40015400-40022400	Weak transcription	Adipose Nuclei	Adipose
41	chr19:40015600-40022600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:40016000-40021800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:40016200-40021600	Weak transcription	Fetal Lung	lung
44	chr19:40016800-40022400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:40017000-40020800	Weak transcription	Fetal Brain Female	brain
46	chr19:40017000-40021600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:40017000-40022200	Weak transcription	NH-A	brain
48	chr19:40017200-40022200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:40017400-40021400	Weak transcription	Dnd41	blood
50	chr19:40017400-40022200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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