Variant report

Variant	rs74046408
Chromosome Location	chr14:35467135-35467136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35465599..35469103-chr14:35471087..35474391,3	MCF-7	breast:
2	chr14:35466324..35467917-chr14:35470934..35473111,2	K562	blood:
3	chr14:35451620..35453361-chr14:35464939..35467575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258704	Chromatin interaction
ENSG00000100883	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1028449	0.91[ASN][1000 genomes]
rs11156867	0.84[ASN][1000 genomes]
rs11156868	0.84[ASN][1000 genomes]
rs11850317	0.84[ASN][1000 genomes]
rs12050171	0.82[ASN][1000 genomes]
rs12050267	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050390	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050402	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050404	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050447	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12161905	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587376	0.88[ASN][1000 genomes]
rs12588755	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12589079	0.86[ASN][1000 genomes]
rs12880809	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12880928	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881698	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12883971	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12886251	0.82[ASN][1000 genomes]
rs12887248	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12887779	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12888272	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890056	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12890307	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12892056	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892552	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12893021	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12894365	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894820	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895051	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895822	0.88[EUR][1000 genomes]
rs12896759	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12897044	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17102904	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102923	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17102967	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17102970	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967723	0.82[ASN][1000 genomes]
rs2273156	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273158	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383688	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383689	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28373355	0.82[ASN][1000 genomes]
rs34286037	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs34678475	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34737707	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs35030792	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35090385	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35106382	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35337462	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35797365	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35830406	0.84[ASN][1000 genomes]
rs35962127	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36008567	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36024417	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36112862	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36159852	0.88[EUR][1000 genomes]
rs3809449	0.91[ASN][1000 genomes]
rs4594164	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs5014384	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56686328	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56950244	0.83[ASN][1000 genomes]
rs57725522	0.81[AFR][1000 genomes]
rs60693825	0.91[ASN][1000 genomes]
rs60803103	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61125355	0.88[ASN][1000 genomes]
rs61136372	0.89[ASN][1000 genomes]
rs62625038	0.89[ASN][1000 genomes]
rs7140843	0.84[ASN][1000 genomes]
rs71409556	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141292	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71421920	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71421921	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7143827	0.84[ASN][1000 genomes]
rs7144574	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144617	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7144646	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7145474	0.86[ASN][1000 genomes]
rs7145608	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145883	0.88[ASN][1000 genomes]
rs7149177	0.88[ASN][1000 genomes]
rs7153068	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153331	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7153550	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7153626	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7154306	0.86[ASN][1000 genomes]
rs7155696	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7156322	0.86[ASN][1000 genomes]
rs7160160	0.86[ASN][1000 genomes]
rs761505	0.84[ASN][1000 genomes]
rs761506	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007274	0.91[ASN][1000 genomes]
rs8009093	0.91[ASN][1000 genomes]
rs8009646	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8011422	0.81[ASN][1000 genomes]
rs8013540	0.91[ASN][1000 genomes]
rs8014327	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014377	0.88[ASN][1000 genomes]
rs8015622	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016566	0.86[ASN][1000 genomes]
rs8017191	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017225	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018114	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018409	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8019179	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
10	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs74046408	PPP2R3C	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453200-35467200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
4	chr14:35453400-35467400	Weak transcription	Placenta	Placenta
5	chr14:35453600-35467600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:35453600-35468800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:35453600-35470600	Weak transcription	Fetal Stomach	stomach
8	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
9	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
10	chr14:35453800-35467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:35453800-35467200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:35453800-35467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:35453800-35468600	Weak transcription	Colonic Mucosa	Colon
14	chr14:35453800-35472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
16	chr14:35453800-35474000	Weak transcription	NHEK	skin
17	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:35454000-35479200	Weak transcription	Gastric	stomach
20	chr14:35454400-35468800	Weak transcription	Left Ventricle	heart
21	chr14:35454400-35471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:35454400-35481600	Weak transcription	HMEC	breast
23	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
24	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
25	chr14:35454600-35468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
27	chr14:35454800-35468400	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:35454800-35468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:35454800-35468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr14:35454800-35469200	Weak transcription	Brain Substantia Nigra	brain
31	chr14:35454800-35471600	Weak transcription	Ovary	ovary
32	chr14:35454800-35471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:35454800-35472000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:35454800-35474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
37	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
38	chr14:35455000-35468800	Weak transcription	Fetal Heart	heart
39	chr14:35455000-35470600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:35455200-35467200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:35455200-35468800	Weak transcription	HSMM	muscle
42	chr14:35455200-35470600	Weak transcription	NH-A	brain
43	chr14:35455200-35477200	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:35455200-35482800	Weak transcription	A549	lung
45	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:35455400-35468800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:35455400-35468800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:35455400-35473400	Weak transcription	Fetal Brain Female	brain
49	chr14:35455600-35468600	Weak transcription	NHDF-Ad	bronchial
50	chr14:35455600-35481600	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links