Variant report

Variant	rs799472
Chromosome Location	chr14:35530468-35530469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35519616..35521249-chr14:35528506..35531084,2	MCF-7	breast:
2	chr14:35525027..35526542-chr14:35529643..35531640,2	K562	blood:
3	chr14:35343011..35344577-chr14:35528833..35531225,2	MCF-7	breast:
4	chr14:35520110..35522080-chr14:35529783..35531632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10444669	0.81[ASN][1000 genomes]
rs10483452	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1091349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620951	0.87[ASN][1000 genomes]
rs11623118	0.86[AFR][1000 genomes]
rs11625046	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625507	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625810	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625942	0.81[ASN][1000 genomes]
rs11626113	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11628446	0.80[ASN][1000 genomes]
rs12147861	0.81[ASN][1000 genomes]
rs12881415	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882986	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1627716	0.93[ASN][1000 genomes]
rs1712354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738799	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34116113	0.93[ASN][1000 genomes]
rs34319196	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34658054	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34844770	0.90[ASN][1000 genomes]
rs35361707	0.90[ASN][1000 genomes]
rs35468265	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35861323	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55805245	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55815172	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56240056	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61989479	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61989495	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61989545	0.80[ASN][1000 genomes]
rs61989546	0.84[ASN][1000 genomes]
rs61989547	0.84[ASN][1000 genomes]
rs66539779	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs712305	0.87[ASN][1000 genomes]
rs712310	0.87[ASN][1000 genomes]
rs712313	0.90[ASN][1000 genomes]
rs71421926	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs799455	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799456	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799465	0.87[ASN][1000 genomes]
rs799466	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799470	0.93[ASN][1000 genomes]
rs799471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799475	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799481	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799482	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799485	0.93[ASN][1000 genomes]
rs799489	0.97[ASN][1000 genomes]
rs799490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799494	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799496	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs799663	0.87[ASN][1000 genomes]
rs799666	0.81[ASN][1000 genomes]
rs799667	0.81[ASN][1000 genomes]
rs876144	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
18	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
22	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs799472	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35516400-35531000	Weak transcription	Gastric	stomach
3	chr14:35516400-35537600	Weak transcription	Ovary	ovary
4	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
5	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:35516800-35530800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:35516800-35536800	Weak transcription	Fetal Kidney	kidney
8	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
9	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
11	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:35517000-35531000	Weak transcription	Pancreas	Pancrea
13	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:35517400-35537600	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:35517400-35544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
17	chr14:35517600-35536400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:35517600-35537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:35517600-35537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:35517600-35545800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35517800-35531400	Strong transcription	Fetal Stomach	stomach
23	chr14:35518000-35547400	Weak transcription	GM12878-XiMat	blood
24	chr14:35519400-35532000	Strong transcription	Placenta	Placenta
25	chr14:35519600-35531800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:35520200-35550800	Weak transcription	NHLF	lung
27	chr14:35520600-35531000	Weak transcription	Right Atrium	heart
28	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:35521600-35531800	Strong transcription	Liver	Liver
30	chr14:35521600-35540800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:35522000-35531800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:35522000-35532200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:35522200-35531600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:35522400-35531000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35522600-35531800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:35522800-35531600	Strong transcription	Fetal Muscle Leg	muscle
37	chr14:35523000-35536800	Weak transcription	NHDF-Ad	bronchial
38	chr14:35523400-35531000	Weak transcription	Primary T cells from cord blood	blood
39	chr14:35523400-35537600	Weak transcription	HSMMtube	muscle
40	chr14:35524400-35531400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:35524400-35531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:35524400-35532000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr14:35524800-35531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:35524800-35532000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:35525800-35531800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr14:35525800-35531800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:35525800-35537800	Weak transcription	Psoas Muscle	Psoas
48	chr14:35526200-35531800	Strong transcription	Fetal Intestine Large	intestine
49	chr14:35526200-35532000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:35526400-35532000	Strong transcription	Primary B cells from cord blood	blood

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