Variant report

Variant	rs7253157
Chromosome Location	chr19:52699515-52699516
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	chr19:52698032-52700450	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:52698545-52700621	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:52699498-52699536	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:52699495-52700278	GM12878	blood:	n/a	n/a
5	GATA3	chr19:52699483-52699645	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52697956..52699548-chr19:52724688..52727509,2	K562	blood:

Variant related genes	Relation type
PPP2R1A	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1025279	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10405293	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10405856	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10405862	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10407987	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10413274	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10413470	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10413847	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10416195	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10422583	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423610	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423794	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10424348	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10425393	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10426066	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13344984	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16983548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16983549	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16983557	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984750	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61435553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73935026	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73937434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103874	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8107377	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7253157	PPP2R1A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52694400-52710200	ZNF genes & repeats	A549	lung
2	chr19:52694600-52702600	Weak transcription	Aorta	Aorta
3	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:52695200-52700200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:52695200-52701200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:52695200-52702000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:52695200-52702800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:52695200-52708400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:52695200-52711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:52695400-52701800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:52695400-52702800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:52695400-52702800	Strong transcription	NHLF	lung
13	chr19:52695400-52707600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:52695400-52732200	Strong transcription	Fetal Lung	lung
15	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:52695600-52702200	Strong transcription	HSMM	muscle
17	chr19:52695600-52702400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:52695600-52702600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:52695600-52717400	Strong transcription	Primary hematopoietic stem cells	blood
20	chr19:52695800-52699600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr19:52695800-52700400	Strong transcription	HMEC	breast
22	chr19:52695800-52700800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:52695800-52701200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:52696000-52700200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:52696000-52700400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
26	chr19:52696000-52701400	Strong transcription	NHEK	skin
27	chr19:52696000-52701400	Strong transcription	Osteobl	bone
28	chr19:52696000-52710800	Strong transcription	Thymus	Thymus
29	chr19:52696000-52723000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:52696000-52732200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:52696000-52732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:52696000-52733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:52696200-52701400	Strong transcription	Placenta	Placenta
34	chr19:52696200-52701400	Strong transcription	NHDF-Ad	bronchial
35	chr19:52696200-52702200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:52696200-52704600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:52696200-52705200	Weak transcription	Small Intestine	intestine
38	chr19:52696200-52729200	Strong transcription	Fetal Intestine Large	intestine
39	chr19:52696200-52732400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:52696200-52732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:52696200-52732400	Strong transcription	Primary B cells from cord blood	blood
42	chr19:52696400-52699800	Strong transcription	Hela-S3	cervix
43	chr19:52696400-52700600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr19:52696600-52701200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:52696600-52701400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:52696600-52702000	Strong transcription	Fetal Intestine Small	intestine
47	chr19:52696600-52702200	Strong transcription	Fetal Stomach	stomach
48	chr19:52696600-52703200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:52696800-52701200	Weak transcription	Fetal Kidney	kidney
50	chr19:52696800-52705600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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