Variant report

Variant	rs73922864
Chromosome Location	chr19:19452336-19452337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19452226-19452487	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:19452015-19454085	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:19451575-19454057	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:19452294-19452615	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:19451992-19452447	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:19451991-19452413	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:19452318-19452632	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:19452169-19452384	A549	lung:	n/a	n/a
9	POLR2A	chr19:19451363-19454957	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:19451458-19454871	K562	blood:	n/a	n/a
11	POLR2A	chr19:19452282-19452375	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:19452153-19454332	K562	blood:	n/a	n/a
13	POLR2A	chr19:19452336-19452647	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:19452039-19452570	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:19451617-19454129	K562	blood:	n/a	n/a
16	POLR2A	chr19:19451517-19454929	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:19452134-19452499	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:19451818-19454058	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:19451573-19454644	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19451384..19453641-chr19:19459438..19462508,3	K562	blood:
2	chr19:19445427..19448842-chr19:19450344..19454175,4	MCF-7	breast:
3	chr19:19429869..19431388-chr19:19451863..19454353,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAU2	TF binding region
ENSG00000105705	Chromatin interaction
ENSG00000129933	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]
rs56317107	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]
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	chr19:19433800-19468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
6	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
7	chr19:19434200-19469000	Strong transcription	Fetal Thymus	thymus
8	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:19434600-19466000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:19434800-19470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:19435000-19471000	Strong transcription	Fetal Brain Female	brain
13	chr19:19435400-19453400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr19:19435600-19455400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:19435600-19468600	Strong transcription	Dnd41	blood
16	chr19:19435600-19470400	Strong transcription	Brain Germinal Matrix	brain
17	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
18	chr19:19436000-19460600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr19:19436800-19455600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:19438200-19469600	Strong transcription	Thymus	Thymus
21	chr19:19438600-19460800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:19438800-19468800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:19439600-19461000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:19439600-19469800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr19:19439800-19453200	Strong transcription	Right Ventricle	heart
26	chr19:19440000-19470400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:19440400-19468400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:19440400-19468600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:19440400-19469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:19440400-19469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:19440400-19469200	Strong transcription	Lung	lung
32	chr19:19440400-19469400	Strong transcription	Liver	Liver
33	chr19:19440400-19475400	Weak transcription	Right Atrium	heart
34	chr19:19440600-19468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:19440600-19468800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:19440800-19468600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr19:19440800-19470400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr19:19440800-19470600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr19:19441200-19468600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:19441600-19470400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:19441800-19460800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:19444600-19460800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:19445200-19468000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:19446000-19468000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:19446200-19452800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:19446600-19452800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr19:19446600-19452800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:19446600-19470800	Strong transcription	Fetal Intestine Small	intestine
49	chr19:19446800-19467400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr19:19447200-19467400	Strong transcription	Fetal Muscle Leg	muscle

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