Variant report

Variant	rs4803207
Chromosome Location	chr19:39619874-39619875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39618750..39620262-chr19:39623192..39625353,2	K562	blood:
2	chr19:39618887..39621010-chr19:39677122..39680092,2	MCF-7	breast:
3	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:
4	chr19:39619372..39620875-chr19:39624285..39626260,2	K562	blood:
5	chr19:39617953..39620169-chr19:39796601..39798987,2	MCF-7	breast:
6	chr19:39618847..39620928-chr19:39651016..39653972,2	K562	blood:
7	chr19:39619125..39620938-chr19:39926907..39929414,2	K562	blood:
8	chr19:39619517..39621262-chr19:39687570..39690464,2	MCF-7	breast:
9	chr19:39452714..39453366-chr19:39619438..39620098,2	MCF-7	breast:
10	chr19:39617432..39618936-chr19:39618990..39621023,2	K562	blood:
11	chr19:39618807..39620742-chr19:39901218..39902940,2	MCF-7	breast:
12	chr19:39615078..39616937-chr19:39618172..39620698,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188505	Chromatin interaction
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11083508	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11666140	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11666238	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669124	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11672886	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11673014	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12327657	0.87[ASN][1000 genomes]
rs12972566	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12978321	0.82[ASN][1000 genomes]
rs17708461	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2319152	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35946542	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4273158	0.96[ASN][1000 genomes]
rs4611580	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803209	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803212	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59944493	0.81[EUR][1000 genomes]
rs750247	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs754704	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8101281	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs874535	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs879689	0.83[AMR][1000 genomes];0.85[EUR][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	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1067028	chr19:39567228-39622846	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4803207	PAK4	cis	Adipose Subcutaneous	GTEx
rs4803207	PAK4	cis	Thyroid	GTEx
rs4803207	PAK4	cis	Skin Sun Exposed Lower leg	GTEx
rs4803207	PAK4	cis	Nerve Tibial	GTEx
rs4803207	PAK4	cis	Whole Blood	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39617000-39622400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:39617000-39630800	Weak transcription	Primary T cells from cord blood	blood
3	chr19:39617000-39635000	Weak transcription	Aorta	Aorta
4	chr19:39617200-39624800	Enhancers	Left Ventricle	heart
5	chr19:39617400-39620000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:39617400-39620000	Enhancers	Right Atrium	heart
7	chr19:39617400-39620800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:39617400-39621000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39617400-39621200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:39617600-39620000	Enhancers	Gastric	stomach
12	chr19:39617600-39620200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:39617600-39622000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:39617600-39625600	Enhancers	Spleen	Spleen
15	chr19:39617600-39627600	Enhancers	Fetal Heart	heart
16	chr19:39617800-39620000	Enhancers	Adipose Nuclei	Adipose
17	chr19:39617800-39620000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr19:39617800-39620200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr19:39617800-39620400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:39617800-39621000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:39617800-39621000	Weak transcription	Psoas Muscle	Psoas
22	chr19:39617800-39622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:39617800-39622400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:39617800-39623000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:39617800-39623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:39617800-39623800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr19:39617800-39624000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:39617800-39624200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr19:39617800-39624600	Enhancers	Stomach Mucosa	stomach
30	chr19:39617800-39625000	Enhancers	Ovary	ovary
31	chr19:39617800-39625200	Enhancers	Pancreas	Pancrea
32	chr19:39617800-39627200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr19:39617800-39628600	Enhancers	Placenta	Placenta
34	chr19:39617800-39630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
36	chr19:39618000-39620000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:39618000-39620000	Enhancers	Brain Anterior Caudate	brain
38	chr19:39618000-39620000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr19:39618000-39620000	Enhancers	HSMMtube	muscle
40	chr19:39618000-39620200	Enhancers	Brain Substantia Nigra	brain
41	chr19:39618000-39621000	Weak transcription	Fetal Kidney	kidney
42	chr19:39618000-39621800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:39618000-39622200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:39618000-39622400	Enhancers	Small Intestine	intestine
45	chr19:39618000-39623600	Enhancers	Brain Angular Gyrus	brain
46	chr19:39618000-39624400	Enhancers	Liver	Liver
47	chr19:39618000-39624600	Enhancers	Fetal Muscle Leg	muscle
48	chr19:39618200-39620000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:39618200-39620000	Enhancers	Brain Hippocampus Middle	brain
50	chr19:39618200-39620000	Enhancers	Fetal Intestine Large	intestine

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