Variant report

Variant	rs73551806
Chromosome Location	chr19:39952853-39952854
allele	A/G
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	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39948878..39954067-chr19:39954959..39958425,6	K562	blood:
2	chr19:39950484..39953457-chr19:39955468..39957476,3	K562	blood:
3	chr19:39947684..39949620-chr19:39951964..39953477,2	K562	blood:

Variant related genes	Relation type
SUPT5H	TF binding region
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10413140	1.00[AMR][1000 genomes]
rs13346052	1.00[AMR][1000 genomes]
rs60840261	1.00[EUR][1000 genomes]
rs61569178	1.00[AMR][1000 genomes]
rs7247534	1.00[EUR][1000 genomes]
rs7254051	1.00[EUR][1000 genomes]
rs73547970	1.00[AMR][1000 genomes]
rs73547976	1.00[AMR][1000 genomes]
rs73547991	1.00[AMR][1000 genomes]
rs73547993	1.00[AMR][1000 genomes]
rs73547999	1.00[AMR][1000 genomes]
rs73549905	1.00[AMR][1000 genomes]
rs73549906	1.00[AMR][1000 genomes]
rs73549912	1.00[AMR][1000 genomes]
rs73549922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73549928	1.00[AMR][1000 genomes]
rs73549930	1.00[AMR][1000 genomes]
rs73549931	1.00[AMR][1000 genomes]
rs73551815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551829	1.00[AMR][1000 genomes]
rs73551839	1.00[AMR][1000 genomes]
rs73551844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553808	1.00[EUR][1000 genomes]
rs73553810	1.00[EUR][1000 genomes]
rs73553830	1.00[EUR][1000 genomes]
rs73553832	1.00[EUR][1000 genomes]
rs73553833	1.00[EUR][1000 genomes]
rs7359872	1.00[AMR][1000 genomes]
rs8101134	1.00[EUR][1000 genomes]
rs9676712	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	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	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
3	chr19:39938600-39967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:39939000-39953400	Strong transcription	Fetal Intestine Small	intestine
5	chr19:39939200-39967600	Strong transcription	Fetal Thymus	thymus
6	chr19:39939400-39968800	Strong transcription	Fetal Stomach	stomach
7	chr19:39940000-39968000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr19:39940200-39968600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:39940200-39968600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:39940200-39968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:39940200-39970600	Weak transcription	Fetal Heart	heart
12	chr19:39941200-39953200	Strong transcription	Dnd41	blood
13	chr19:39941200-39954200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:39941400-39967400	Strong transcription	Fetal Intestine Large	intestine
15	chr19:39942000-39967400	Strong transcription	Thymus	Thymus
16	chr19:39942000-39967600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:39942200-39953200	Strong transcription	Brain Angular Gyrus	brain
18	chr19:39942200-39967600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:39942200-39967600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:39942200-39967600	Strong transcription	Placenta	Placenta
21	chr19:39942200-39967600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:39942200-39967800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:39942400-39953400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:39942600-39953800	Strong transcription	Ovary	ovary
25	chr19:39942600-39967600	Strong transcription	Liver	Liver
26	chr19:39942800-39967400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:39942800-39967800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:39943000-39967200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr19:39943000-39967800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:39943200-39967800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:39943400-39967400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:39944000-39953600	Strong transcription	Left Ventricle	heart
33	chr19:39944000-39967400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:39945800-39955400	Weak transcription	Hela-S3	cervix
35	chr19:39945800-39966200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:39946600-39967600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:39946600-39967600	Strong transcription	Primary B cells from cord blood	blood
38	chr19:39946600-39967800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:39946800-39953200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:39946800-39953200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:39946800-39967800	Strong transcription	Osteobl	bone
42	chr19:39947000-39967800	Strong transcription	Primary T cells from cord blood	blood
43	chr19:39947200-39953200	Strong transcription	HUVEC	blood vessel
44	chr19:39947200-39968800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:39947400-39953200	Strong transcription	Brain Anterior Caudate	brain
46	chr19:39947400-39953200	Strong transcription	Brain Germinal Matrix	brain
47	chr19:39947400-39953200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr19:39947400-39953200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr19:39947400-39954200	Strong transcription	A549	lung
50	chr19:39947400-39961200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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