Variant report

Variant	rs28848005
Chromosome Location	chr5:112827550-112827551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112827539-112827589	Hepatocyte	liver:	n/a
2	chr5:112827539-112827589	AG10803	skin:	n/a
3	chr5:112827539-112827589	SK-N-SH	brain:	n/a
4	chr5:112827539-112827589	AG04449	skin:	fetal
5	chr5:112827539-112827589	PrEC	prostate:	n/a
6	chr5:112827539-112827589	Caco-2	colon:	n/a
7	chr5:112827539-112827589	SAEC	small airway:	n/a
8	chr5:112827539-112827589	NHBE	bronchial:	n/a
9	chr5:112827539-112827589	AoSMC	blood vessel:	n/a
10	chr5:112827539-112827589	ProgFib	skin:	n/a
11	chr5:112827539-112827589	HIPEpiC	eye:	n/a
12	chr5:112827539-112827589	T-47D	breast:	n/a
13	chr5:112827539-112827589	HRPEpiC	eye:	n/a
14	chr5:112827539-112827589	PFSK-1	brain:	n/a
15	chr5:112827539-112827589	H1-hESC	embryonic stem cell:	embryo
16	chr5:112827539-112827589	GM12892	blood:	n/a
17	chr5:112827539-112827589	NB4	blood:	n/a
18	chr5:112827539-112827589	Jurkat	blood:	n/a
19	chr5:112827539-112827589	ovcar-3	ovarian:	n/a
20	chr5:112827539-112827589	NT2-D1	testis:	n/a
21	chr5:112827539-112827589	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:112827539-112827589	HepG2	liver:	n/a
23	chr5:112827539-112827589	HUVEC	blood vessel:	n/a
24	chr5:112827539-112827589	HAEpiC	amniotic membrane:	n/a
25	chr5:112827539-112827589	IMR90	lung:	fetal
26	chr5:112827539-112827589	GM06990	blood:	n/a
27	chr5:112827539-112827589	NHDF-neo	bronchial:	n/a
28	chr5:112827539-112827589	GM12878	blood:	n/a
29	chr5:112827539-112827589	AG09309	skin:	n/a
30	chr5:112827539-112827589	SK-N-MC	brain:	n/a
31	chr5:112827539-112827589	CMK	blood:	n/a
32	chr5:112827539-112827589	A549	lung:	n/a
33	chr5:112827539-112827589	RPTEC	kidney:	n/a
34	chr5:112827539-112827589	MCF10A-Er-Src	breast:	n/a
35	chr5:112827539-112827589	PANC-1	pancreas:	n/a
36	chr5:112827539-112827589	HCM	heart:	n/a
37	chr5:112827539-112827589	ECC-1	luminal epithelium:	n/a
38	chr5:112827539-112827589	U87	brain:	n/a
39	chr5:112827539-112827589	GM12891	blood:	n/a
40	chr5:112827539-112827589	HRCEpiC	kidney:	n/a
41	chr5:112827539-112827589	GM19239	blood:	n/a
42	chr5:112827539-112827589	HL-60	blood:	n/a
43	chr5:112827539-112827589	BJ	skin:	n/a
44	chr5:112827539-112827589	NH-A	brain:	n/a
45	chr5:112827539-112827589	AG04450	lung:	fetal
46	chr5:112827539-112827589	HNPCEpiC	eye:	n/a
47	chr5:112827539-112827589	BE2_C	brain:	n/a
48	chr5:112827539-112827589	SKMC	muscle:	n/a
49	chr5:112827539-112827589	LNCaP	prostate:	n/a
50	chr5:112827539-112827589	HEEpiC	esophagus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112826945..112828680-chr5:112831209..112832875,2	MCF-7	breast:
2	chr5:112823623..112825710-chr5:112826639..112829484,3	MCF-7	breast:
3	chr5:112819169..112822042-chr5:112827227..112829109,2	MCF-7	breast:

No data

Variant related genes	Relation type
MCC	CpG island
RNU4ATAC13P	CpG island
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 202 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:201)

rs_ID	r²[population]
rs10036298	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10036300	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10038632	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10039853	0.92[ASN][1000 genomes]
rs10040203	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10040430	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10040516	0.86[EUR][1000 genomes]
rs10042563	0.86[EUR][1000 genomes]
rs10043066	0.86[EUR][1000 genomes]
rs10046057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052077	0.86[EUR][1000 genomes]
rs10053582	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10061552	0.88[ASN][1000 genomes]
rs10063008	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10065616	0.86[EUR][1000 genomes]
rs10071816	0.92[ASN][1000 genomes]
rs10072547	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10076131	0.86[EUR][1000 genomes]
rs10079603	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10079758	0.92[ASN][1000 genomes]
rs10079895	0.92[ASN][1000 genomes]
rs10079973	0.92[ASN][1000 genomes]
rs10080096	0.92[ASN][1000 genomes]
rs1017209	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1035888	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10477495	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10477497	0.92[ASN][1000 genomes]
rs10477498	0.92[ASN][1000 genomes]
rs10477499	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10477500	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10478126	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10478127	0.92[ASN][1000 genomes]
rs10478129	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10478132	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1052896	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1057827	0.80[AFR][1000 genomes]
rs1080858	0.86[EUR][1000 genomes]
rs11241210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241211	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241212	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241214	0.88[ASN][1000 genomes]
rs11241215	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11742968	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749931	0.92[ASN][1000 genomes]
rs11750449	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11750488	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11956399	0.92[ASN][1000 genomes]
rs12186798	0.92[ASN][1000 genomes]
rs12514105	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12516911	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12652172	0.92[ASN][1000 genomes]
rs12654189	0.92[ASN][1000 genomes]
rs12660001	0.92[ASN][1000 genomes]
rs13359625	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13359648	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13359652	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13359703	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13362066	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549628	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs168365	0.83[AFR][1000 genomes]
rs168366	0.83[AFR][1000 genomes]
rs171180	0.83[AFR][1000 genomes]
rs17135766	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17135776	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1820059	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1833680	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1833681	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862315	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs191553	0.81[AFR][1000 genomes]
rs1970798	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2115216	0.85[EUR][1000 genomes]
rs2162842	0.92[ASN][1000 genomes]
rs2162847	0.85[EUR][1000 genomes]
rs2248930	0.80[AFR][1000 genomes]
rs2288449	0.86[ASN][1000 genomes]
rs2416319	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26991	0.81[AMR][1000 genomes]
rs28558374	0.92[ASN][1000 genomes]
rs2900072	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34514665	0.93[ASN][1000 genomes]
rs34864074	0.93[ASN][1000 genomes]
rs348924	0.83[AFR][1000 genomes]
rs348925	0.83[AFR][1000 genomes]
rs348928	0.83[AFR][1000 genomes]
rs348929	0.83[AFR][1000 genomes]
rs348930	0.83[AFR][1000 genomes]
rs348931	0.82[AFR][1000 genomes]
rs348932	0.82[AFR][1000 genomes]
rs348938	0.85[AFR][1000 genomes]
rs348940	0.85[AFR][1000 genomes]
rs348944	0.83[AFR][1000 genomes]
rs348947	0.83[AFR][1000 genomes]
rs348948	0.82[AFR][1000 genomes]
rs348952	0.83[AFR][1000 genomes]
rs348954	0.83[AFR][1000 genomes]
rs348955	0.83[AFR][1000 genomes]
rs348956	0.83[AFR][1000 genomes]
rs348957	0.83[AFR][1000 genomes]
rs348958	0.84[AFR][1000 genomes]
rs348960	0.83[AFR][1000 genomes]
rs348961	0.83[AFR][1000 genomes]
rs348962	0.83[AFR][1000 genomes]
rs348963	0.83[AFR][1000 genomes]
rs35162738	0.93[ASN][1000 genomes]
rs35526509	0.89[ASN][1000 genomes]
rs364738	0.81[AFR][1000 genomes]
rs367943	0.80[AFR][1000 genomes]
rs3763138	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763140	0.85[ASN][1000 genomes]
rs3815911	0.85[ASN][1000 genomes]
rs3842917	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs388363	0.81[AFR][1000 genomes]
rs3906538	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3909887	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3936061	0.93[ASN][1000 genomes]
rs4122547	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4132093	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4132094	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4334877	0.93[ASN][1000 genomes]
rs444322	0.83[AFR][1000 genomes]
rs451425	0.81[AFR][1000 genomes]
rs4588592	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705552	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4705553	0.94[ASN][1000 genomes]
rs4705555	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705556	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705557	0.86[ASN][1000 genomes]
rs4705823	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4705825	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705827	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705828	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705832	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4705833	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56030143	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56206672	0.86[ASN][1000 genomes]
rs57134656	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58044020	0.92[ASN][1000 genomes]
rs58391392	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60265545	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60871281	0.92[ASN][1000 genomes]
rs60914066	0.82[EUR][1000 genomes]
rs6594718	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6594719	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6594720	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6594721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594729	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6594732	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594733	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594734	0.92[ASN][1000 genomes]
rs6594738	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67915940	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865809	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867502	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6876448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6877432	0.92[ASN][1000 genomes]
rs6877466	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877834	0.84[ASN][1000 genomes]
rs6878282	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6878355	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6878900	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6880447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6883383	0.85[ASN][1000 genomes]
rs6883557	0.85[ASN][1000 genomes]
rs6886628	0.88[ASN][1000 genomes]
rs6887816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889501	0.92[ASN][1000 genomes]
rs6889574	0.92[ASN][1000 genomes]
rs6889783	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6898425	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72805422	0.92[ASN][1000 genomes]
rs7349799	0.90[ASN][1000 genomes]
rs754573	0.87[EUR][1000 genomes]
rs7701913	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7704170	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7706215	0.92[ASN][1000 genomes]
rs7706796	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7706958	0.92[ASN][1000 genomes]
rs7707895	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7709110	0.88[ASN][1000 genomes]
rs7711078	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7711211	0.92[ASN][1000 genomes]
rs7711367	0.92[ASN][1000 genomes]
rs7713038	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7713451	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7713846	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7715601	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7717644	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722918	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7723108	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7729306	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7730532	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7730557	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7730949	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7732310	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7737023	0.92[ASN][1000 genomes]
rs919304	0.85[ASN][1000 genomes]
rs929774	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9326893	0.88[ASN][1000 genomes]
rs9326897	0.86[EUR][1000 genomes]
rs9654519	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9885245	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28848005	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112825400-112827600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr5:112825600-112828200	Weak transcription	Aorta	Aorta
3	chr5:112826800-112827600	ZNF genes & repeats	Lung	lung
4	chr5:112827000-112827800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:112827200-112828600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:112827200-112840400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112827400-112831000	Weak transcription	NHEK	skin

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