Variant report

Variant	rs56686328
Chromosome Location	chr14:35458070-35458071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:35457875-35458362	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35451408..35453567-chr14:35454171..35458229,4	MCF-7	breast:
2	chr14:35449790..35454325-chr14:35456141..35461309,8	K562	blood:
3	chr14:35455082..35458071-chr14:35459564..35462136,2	MCF-7	breast:
4	chr14:35456800..35459337-chr14:35464974..35467131,2	K562	blood:
5	chr14:35405852..35407525-chr14:35456925..35458489,2	K562	blood:
6	chr14:35017275..35019117-chr14:35456494..35458889,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000258704	Chromatin interaction
ENSG00000100883	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1028449	0.89[ASN][1000 genomes]
rs11156867	0.85[ASN][1000 genomes]
rs11156868	0.85[ASN][1000 genomes]
rs11850317	0.85[ASN][1000 genomes]
rs12050171	0.83[ASN][1000 genomes]
rs12050267	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12050390	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050402	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050404	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050447	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12161905	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587376	0.87[ASN][1000 genomes]
rs12588755	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12589079	0.84[ASN][1000 genomes]
rs12880809	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12880928	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12881698	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12883971	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12886251	0.84[ASN][1000 genomes]
rs12887248	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12887779	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12888272	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12890056	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12890307	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12892056	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12892552	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12893021	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12894365	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12894820	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12895051	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12895822	0.88[EUR][1000 genomes]
rs12896759	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12897044	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17102904	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17102923	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17102967	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102970	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1967723	0.84[ASN][1000 genomes]
rs2273156	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273158	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2383688	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2383689	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28373355	0.84[ASN][1000 genomes]
rs34286037	0.83[ASN][1000 genomes]
rs34678475	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34737707	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35030792	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35090385	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35106382	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35337462	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35797365	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35830406	0.85[ASN][1000 genomes]
rs35962127	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36008567	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36024417	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36112862	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36159852	0.88[EUR][1000 genomes]
rs3809449	0.89[ASN][1000 genomes]
rs4573843	0.80[ASN][1000 genomes]
rs4594164	0.89[ASN][1000 genomes]
rs5014384	0.89[ASN][1000 genomes]
rs56950244	0.84[ASN][1000 genomes]
rs60693825	0.89[ASN][1000 genomes]
rs60803103	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61125355	0.87[ASN][1000 genomes]
rs61136372	0.87[ASN][1000 genomes]
rs62625038	0.88[ASN][1000 genomes]
rs7140843	0.85[ASN][1000 genomes]
rs71409556	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141292	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71421920	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71421921	0.93[ASN][1000 genomes]
rs7143827	0.85[ASN][1000 genomes]
rs7144574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7144617	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7144646	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145474	0.84[ASN][1000 genomes]
rs7145608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145883	0.86[ASN][1000 genomes]
rs7149177	0.87[ASN][1000 genomes]
rs7153068	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153331	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7153550	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7153626	0.88[ASN][1000 genomes]
rs7154306	0.84[ASN][1000 genomes]
rs7155696	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7156322	0.84[ASN][1000 genomes]
rs7160160	0.84[ASN][1000 genomes]
rs74046408	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761505	0.85[ASN][1000 genomes]
rs761506	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8007274	0.89[ASN][1000 genomes]
rs8009093	0.89[ASN][1000 genomes]
rs8009646	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8011422	0.82[ASN][1000 genomes]
rs8013540	0.89[ASN][1000 genomes]
rs8014327	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8014377	0.87[ASN][1000 genomes]
rs8015622	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016566	0.87[ASN][1000 genomes]
rs8017191	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017225	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018114	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018409	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019179	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56686328	PPP2R3C	cis	Whole Blood	GTEx
rs56686328	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

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	chr14:35453400-35459600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr14:35453400-35467400	Weak transcription	Placenta	Placenta
6	chr14:35453600-35467600	Weak transcription	Fetal Intestine Small	intestine
7	chr14:35453600-35468800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:35453600-35470600	Weak transcription	Fetal Stomach	stomach
9	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
10	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
11	chr14:35453800-35466600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:35453800-35467200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:35453800-35467200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:35453800-35467200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:35453800-35468600	Weak transcription	Colonic Mucosa	Colon
16	chr14:35453800-35472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
18	chr14:35453800-35474000	Weak transcription	NHEK	skin
19	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:35454000-35465600	Weak transcription	Primary B cells from cord blood	blood
22	chr14:35454000-35479200	Weak transcription	Gastric	stomach
23	chr14:35454400-35458600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:35454400-35460800	Weak transcription	Lung	lung
25	chr14:35454400-35466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:35454400-35468800	Weak transcription	Left Ventricle	heart
27	chr14:35454400-35471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:35454400-35481600	Weak transcription	HMEC	breast
29	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
30	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
31	chr14:35454600-35468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
33	chr14:35454800-35459600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:35454800-35465600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:35454800-35465800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:35454800-35466200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:35454800-35466600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:35454800-35466600	Weak transcription	Osteobl	bone
39	chr14:35454800-35466800	Weak transcription	Adipose Nuclei	Adipose
40	chr14:35454800-35467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:35454800-35468400	Weak transcription	Fetal Muscle Leg	muscle
42	chr14:35454800-35468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:35454800-35468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:35454800-35469200	Weak transcription	Brain Substantia Nigra	brain
45	chr14:35454800-35471600	Weak transcription	Ovary	ovary
46	chr14:35454800-35471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:35454800-35472000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:35454800-35474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine

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