Variant report

Variant	rs60693825
Chromosome Location	chr14:35514456-35514457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr14:35514310-35516481	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:35514317-35516700	IMR90	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35460081..35462987-chr14:35513991..35516983,2	MCF-7	breast:
2	chr14:35514107..35515830-chr14:35872683..35874428,2	MCF-7	breast:
3	chr14:35513511..35517056-chr14:35517636..35522677,6	K562	blood:
4	chr14:35514228..35515878-chr14:35780242..35782321,2	MCF-7	breast:
5	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
6	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
7	chr14:35514347..35516079-chr14:35590063..35591815,2	K562	blood:
8	chr14:35512802..35518057-chr14:35589980..35593805,9	MCF-7	breast:
9	chr14:35514347..35518167-chr14:35589018..35591815,3	K562	blood:
10	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:
11	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:
12	chr14:35513731..35517214-chr14:35589119..35593617,5	MCF-7	breast:
13	chr14:35514169..35519549-chr14:35872431..35877872,11	MCF-7	breast:

No data

Variant related genes	Relation type
FAM177A1	TF binding region
ENSG00000198604	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258790	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1028449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156875	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12050390	0.87[ASN][1000 genomes]
rs12050402	0.88[ASN][1000 genomes]
rs12050404	0.89[ASN][1000 genomes]
rs12050447	0.89[ASN][1000 genomes]
rs12587376	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12589079	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12880809	0.86[ASN][1000 genomes]
rs12880928	0.91[ASN][1000 genomes]
rs12881698	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12887248	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12887779	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12890307	0.82[ASN][1000 genomes]
rs12892552	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893021	0.81[ASN][1000 genomes]
rs12894820	0.81[ASN][1000 genomes]
rs12895051	0.81[ASN][1000 genomes]
rs12896759	0.93[ASN][1000 genomes]
rs17102904	0.81[ASN][1000 genomes]
rs17102923	0.82[ASN][1000 genomes]
rs17102967	0.93[ASN][1000 genomes]
rs17102970	0.93[ASN][1000 genomes]
rs2010648	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2038255	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2143950	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2179890	0.82[ASN][1000 genomes]
rs2273158	0.91[ASN][1000 genomes]
rs2415260	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2415261	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2415262	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28365850	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28399702	0.81[EUR][1000 genomes]
rs34286037	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34678475	0.82[ASN][1000 genomes]
rs34737707	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35030792	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35090385	0.81[ASN][1000 genomes]
rs35106382	0.81[ASN][1000 genomes]
rs35797365	0.82[ASN][1000 genomes]
rs36112862	0.92[ASN][1000 genomes]
rs3809449	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456414	0.80[ASN][1000 genomes]
rs4594164	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5014384	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686328	0.89[ASN][1000 genomes]
rs57075379	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57725522	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58770366	0.82[ASN][1000 genomes]
rs61125355	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61136372	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62625038	0.98[ASN][1000 genomes]
rs7141292	0.86[ASN][1000 genomes]
rs71421920	0.81[ASN][1000 genomes]
rs71421921	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7142489	0.82[ASN][1000 genomes]
rs7144423	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144574	0.85[ASN][1000 genomes]
rs7144617	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144646	0.82[ASN][1000 genomes]
rs7145474	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7145608	0.89[ASN][1000 genomes]
rs7145883	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7149177	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153068	0.89[ASN][1000 genomes]
rs7153331	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153550	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153626	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154306	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155696	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156322	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159324	0.82[AMR][1000 genomes]
rs7160160	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680650	0.82[ASN][1000 genomes]
rs74046408	0.91[ASN][1000 genomes]
rs8006583	0.82[ASN][1000 genomes]
rs8007274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013540	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014327	0.81[ASN][1000 genomes]
rs8014377	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015622	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8017191	0.91[ASN][1000 genomes]
rs8017225	0.91[ASN][1000 genomes]
rs8018114	0.91[ASN][1000 genomes]
rs8019179	0.81[ASN][1000 genomes]
rs941653	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9672061	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60693825	PPP2R3C	cis	Whole Blood	GTEx
rs60693825	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL
rs60693825	KIAA0391	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
2	chr14:35490200-35514600	Weak transcription	NHLF	lung
3	chr14:35496800-35514600	Weak transcription	HSMMtube	muscle
4	chr14:35498600-35514600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:35502800-35514600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:35503800-35514600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:35503800-35514600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:35503800-35514800	Weak transcription	Aorta	Aorta
9	chr14:35504000-35514600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:35504000-35514600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:35504000-35514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:35504000-35515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:35510600-35514800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr14:35513600-35514600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:35514000-35514600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:35514200-35514600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:35514200-35514600	Enhancers	Primary T cells from cord blood	blood
18	chr14:35514200-35514600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:35514200-35514600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:35514200-35514600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:35514200-35514600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:35514200-35514600	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:35514200-35514600	Enhancers	Fetal Intestine Small	intestine
24	chr14:35514200-35514600	Enhancers	Fetal Kidney	kidney
25	chr14:35514200-35514600	Enhancers	Dnd41	blood
26	chr14:35514200-35514600	Enhancers	HMEC	breast
27	chr14:35514200-35515200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr14:35514200-35515200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:35514200-35516400	Active TSS	Brain Cingulate Gyrus	brain
30	chr14:35514200-35516600	Active TSS	Brain Angular Gyrus	brain
31	chr14:35514200-35516600	Active TSS	Brain Hippocampus Middle	brain
32	chr14:35514200-35516600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:35514400-35514600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:35514400-35514600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:35514400-35514600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:35514400-35514600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:35514400-35514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr14:35514400-35514600	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:35514400-35514600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:35514400-35514600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:35514400-35514600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr14:35514400-35514600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:35514400-35514600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:35514400-35514600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:35514400-35514600	Enhancers	Adipose Nuclei	Adipose
46	chr14:35514400-35514600	Enhancers	Liver	Liver
47	chr14:35514400-35514600	Active TSS	Brain Anterior Caudate	brain
48	chr14:35514400-35514600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr14:35514400-35514600	Enhancers	Fetal Brain Female	brain
50	chr14:35514400-35514600	Enhancers	Fetal Intestine Large	intestine

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