Variant report

Variant	rs56317107
Chromosome Location	chr19:19448539-19448540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19448428-19448767	K562	blood:	n/a	n/a
2	POLR2A	chr19:19448085-19448573	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19445107..19449445-chr19:19450274..19452019,4	K562	blood:
2	chr19:19445427..19448842-chr19:19450344..19454175,4	MCF-7	breast:
3	chr19:19447352..19449324-chr19:19462944..19465029,2	MCF-7	breast:
4	chr19:19443342..19445663-chr19:19448182..19449941,2	K562	blood:
5	chr19:19430075..19433378-chr19:19444857..19448772,4	K562	blood:
6	chr19:19430044..19433811-chr19:19447380..19449569,3	K562	blood:

No data

Variant related genes	Relation type
MAU2	TF binding region
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10402799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417312	0.89[AMR][1000 genomes]
rs10417715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422331	0.82[AFR][1000 genomes]
rs10422522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422620	0.82[AFR][1000 genomes]
rs10423747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12327663	0.96[AFR][1000 genomes]
rs16996031	0.96[AFR][1000 genomes]
rs16996042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2106699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2315280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437425	0.92[AFR][1000 genomes]
rs28857503	0.92[AFR][1000 genomes]
rs55877107	0.85[AFR][1000 genomes]
rs56304704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60860168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248765	1.00[AMR][1000 genomes]
rs7249940	1.00[AMR][1000 genomes]
rs73922864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8110508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19433200-19452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:19433400-19469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19433400-19470600	Strong transcription	Fetal Stomach	stomach
4	chr19:19433600-19448800	Weak transcription	Stomach Mucosa	stomach
5	chr19:19433800-19468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
7	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
8	chr19:19434200-19469000	Strong transcription	Fetal Thymus	thymus
9	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:19434400-19449800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:19434400-19450600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:19434600-19466000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:19434800-19470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:19435000-19471000	Strong transcription	Fetal Brain Female	brain
16	chr19:19435200-19449200	Weak transcription	Fetal Brain Male	brain
17	chr19:19435400-19453400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr19:19435600-19455400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:19435600-19468600	Strong transcription	Dnd41	blood
20	chr19:19435600-19470400	Strong transcription	Brain Germinal Matrix	brain
21	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
22	chr19:19436000-19460600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr19:19436800-19455600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:19437000-19449000	Weak transcription	Fetal Kidney	kidney
25	chr19:19438200-19448600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:19438200-19450000	Strong transcription	Primary T cells from cord blood	blood
27	chr19:19438200-19469600	Strong transcription	Thymus	Thymus
28	chr19:19438400-19450000	Strong transcription	Brain Anterior Caudate	brain
29	chr19:19438400-19450600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:19438600-19450000	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:19438600-19460800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:19438800-19468800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:19439600-19461000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:19439600-19469800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:19439800-19453200	Strong transcription	Right Ventricle	heart
36	chr19:19440000-19449800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:19440000-19470400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:19440200-19449800	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:19440400-19448600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:19440400-19449000	Weak transcription	K562	blood
41	chr19:19440400-19450800	Strong transcription	Brain Substantia Nigra	brain
42	chr19:19440400-19468400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr19:19440400-19468600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:19440400-19469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:19440400-19469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:19440400-19469200	Strong transcription	Lung	lung
47	chr19:19440400-19469400	Strong transcription	Liver	Liver
48	chr19:19440400-19475400	Weak transcription	Right Atrium	heart
49	chr19:19440600-19449800	Strong transcription	Primary B cells from cord blood	blood
50	chr19:19440600-19468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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