Variant report

Variant	rs73552895
Chromosome Location	chr19:42802843-42802844
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	chr19:42802759-42802895	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr19:42802497-42802949	U87	brain:	n/a	n/a
3	POLR2A	chr19:42802599-42802859	K562	blood:	n/a	n/a
4	POLR2A	chr19:42802754-42802930	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:42799193-42803016	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr19:42798210-42803102	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:42802829-42802854	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42687341..42690027-chr19:42800548..42802977,2	K562	blood:
2	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
3	chr19:42800206..42802945-chr19:42830360..42832764,2	K562	blood:

Variant related genes	Relation type
PRR19	TF binding region
ENSG00000079432	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10410185	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410198	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410698	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412833	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426306	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426310	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557114	0.91[ASN][1000 genomes]
rs11878620	0.91[ASN][1000 genomes]
rs11882654	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1206009	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206027	0.93[EUR][1000 genomes]
rs1206028	0.83[EUR][1000 genomes]
rs1206029	0.89[EUR][1000 genomes]
rs1206031	0.89[EUR][1000 genomes]
rs1206033	0.86[EUR][1000 genomes]
rs1206035	0.93[EUR][1000 genomes]
rs1206038	0.93[EUR][1000 genomes]
rs1206040	0.93[EUR][1000 genomes]
rs1206041	0.93[EUR][1000 genomes]
rs1206042	0.93[EUR][1000 genomes]
rs1206043	0.87[EUR][1000 genomes]
rs1206044	0.93[EUR][1000 genomes]
rs1209280	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1211265	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13346991	0.93[EUR][1000 genomes]
rs1613100	0.91[EUR][1000 genomes]
rs1654623	0.91[EUR][1000 genomes]
rs1676211	0.93[EUR][1000 genomes]
rs1676213	0.91[EUR][1000 genomes]
rs1676214	0.86[EUR][1000 genomes]
rs1676215	0.91[EUR][1000 genomes]
rs1676217	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1676220	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676221	0.93[EUR][1000 genomes]
rs1685565	0.89[EUR][1000 genomes]
rs2267630	0.87[ASN][1000 genomes]
rs2302485	0.91[ASN][1000 genomes]
rs2537697	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2615614	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28537976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621009	0.89[EUR][1000 genomes]
rs34922891	0.89[EUR][1000 genomes]
rs35493131	0.91[ASN][1000 genomes]
rs35557987	0.89[EUR][1000 genomes]
rs3810148	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141062	0.95[ASN][1000 genomes]
rs57938324	1.00[ASN][1000 genomes]
rs61995685	0.89[EUR][1000 genomes]
rs7255956	0.93[EUR][1000 genomes]
rs7258795	1.00[ASN][1000 genomes]
rs7260287	0.93[EUR][1000 genomes]
rs73552881	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741070	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851292	0.89[EUR][1000 genomes]
rs851293	0.89[EUR][1000 genomes]
rs851296	0.91[EUR][1000 genomes]
rs851612	0.95[ASN][1000 genomes]
rs851615	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs862228	0.93[EUR][1000 genomes]
rs865436	0.93[EUR][1000 genomes]
rs9636121	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42790600-42804600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:42790600-42804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42790600-42805000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:42790600-42805400	Weak transcription	Stomach Mucosa	stomach
5	chr19:42790600-42806000	Weak transcription	Psoas Muscle	Psoas
6	chr19:42791200-42804600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:42791200-42805800	Weak transcription	Fetal Heart	heart
8	chr19:42791200-42806000	Weak transcription	Right Atrium	heart
9	chr19:42791400-42804400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42791400-42804600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:42791600-42804600	Strong transcription	Fetal Stomach	stomach
12	chr19:42792200-42804000	Strong transcription	Fetal Brain Female	brain
13	chr19:42792800-42806000	Weak transcription	HSMM	muscle
14	chr19:42794400-42805600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:42794400-42805800	Weak transcription	NHDF-Ad	bronchial
16	chr19:42795400-42804000	Strong transcription	Brain Germinal Matrix	brain
17	chr19:42795600-42804600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:42796000-42803000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:42796000-42805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:42796600-42805600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:42796600-42805600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:42796800-42803000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:42798400-42805400	Weak transcription	HepG2	liver
24	chr19:42798600-42806200	Weak transcription	Small Intestine	intestine
25	chr19:42799000-42805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:42799000-42805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:42799000-42805800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:42799000-42806000	Weak transcription	Aorta	Aorta
31	chr19:42799000-42806000	Weak transcription	Left Ventricle	heart
32	chr19:42799200-42805400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:42799200-42805600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:42799200-42805600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:42799400-42805600	Weak transcription	Primary T cells from cord blood	blood
36	chr19:42799400-42806000	Weak transcription	Ovary	ovary
37	chr19:42799600-42805400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:42799600-42805800	Weak transcription	Colonic Mucosa	Colon
39	chr19:42799600-42805800	Weak transcription	Right Ventricle	heart
40	chr19:42799600-42806000	Weak transcription	HSMMtube	muscle
41	chr19:42799800-42804000	Weak transcription	Lung	lung
42	chr19:42800000-42805600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr19:42800000-42805600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:42800200-42803000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:42800200-42803200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:42800200-42804600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr19:42800200-42805800	Weak transcription	Primary B cells from cord blood	blood
48	chr19:42800200-42806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:42800400-42804600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr19:42800400-42804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links