Variant report

Variant	rs11241209
Chromosome Location	chr5:112768936-112768937
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112768825-112768950	MCF-7	breast:	n/a	n/a
2	POLR2A	chr5:112768877-112768943	HepG2	liver:	n/a	n/a
3	HEY1	chr5:112768828-112769026	K562	blood:	n/a	n/a
4	POLR2A	chr5:112768866-112768989	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:112768703-112768952	K562	blood:	n/a	n/a
6	POLR2A	chr5:112768735-112768951	MCF-7	breast:	n/a	n/a
7	E2F6	chr5:112768859-112768990	K562	blood:	n/a	n/a
8	POLR2A	chr5:112768750-112768949	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112768887-112768937	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:112768887-112768937	Caco-2	colon:	n/a
3	chr5:112768887-112768937	HIPEpiC	eye:	n/a
4	chr5:112768887-112768937	H1-hESC	embryonic stem cell:	embryo
5	chr5:112768887-112768937	A549	lung:	n/a
6	chr5:112768887-112768937	HL-60	blood:	n/a
7	chr5:112768887-112768937	PANC-1	pancreas:	n/a
8	chr5:112768887-112768937	IMR90	lung:	fetal
9	chr5:112768887-112768937	GM06990	blood:	n/a
10	chr5:112768887-112768937	GM12892	blood:	n/a
11	chr5:112768887-112768937	NHBE	bronchial:	n/a
12	chr5:112768887-112768937	BE2_C	brain:	n/a
13	chr5:112768887-112768937	SK-N-SH	brain:	n/a
14	chr5:112768887-112768937	NT2-D1	testis:	n/a
15	chr5:112768887-112768937	HRCEpiC	kidney:	n/a
16	chr5:112768887-112768937	PFSK-1	brain:	n/a
17	chr5:112768887-112768937	HAEpiC	amniotic membrane:	n/a
18	chr5:112768887-112768937	HRPEpiC	eye:	n/a
19	chr5:112768887-112768937	HRE	kidney:	n/a
20	chr5:112768887-112768937	AG04449	skin:	fetal
21	chr5:112768887-112768937	GM19239	blood:	n/a
22	chr5:112768887-112768937	AG09309	skin:	n/a
23	chr5:112768887-112768937	HUVEC	blood vessel:	n/a
24	chr5:112768887-112768937	HNPCEpiC	eye:	n/a
25	chr5:112768887-112768937	HCT-116	colon:	n/a
26	chr5:112768887-112768937	AG10803	skin:	n/a
27	chr5:112768887-112768937	SK-N-MC	brain:	n/a
28	chr5:112768887-112768937	RPTEC	kidney:	n/a
29	chr5:112768887-112768937	HMEC	breast:	n/a
30	chr5:112768887-112768937	HepG2	liver:	n/a
31	chr5:112768887-112768937	LNCaP	prostate:	n/a
32	chr5:112768887-112768937	T-47D	breast:	n/a
33	chr5:112768887-112768937	SAEC	small airway:	n/a
34	chr5:112768887-112768937	ECC-1	luminal epithelium:	n/a
35	chr5:112768887-112768937	HEK293	kidney:	embryo
36	chr5:112768887-112768937	NB4	blood:	n/a
37	chr5:112768887-112768937	ProgFib	skin:	n/a
38	chr5:112768887-112768937	K562	blood:	n/a
39	chr5:112768887-112768937	GM12891	blood:	n/a
40	chr5:112768887-112768937	CMK	blood:	n/a
41	chr5:112768887-112768937	SKMC	muscle:	n/a
42	chr5:112768887-112768937	PrEC	prostate:	n/a
43	chr5:112768887-112768937	MCF10A-Er-Src	breast:	n/a
44	chr5:112768887-112768937	BJ	skin:	n/a
45	chr5:112768887-112768937	Hepatocyte	liver:	n/a
46	chr5:112768887-112768937	SK-N-SH_RA	brain:	n/a
47	chr5:112768887-112768937	AG04450	lung:	fetal
48	chr5:112768887-112768937	NHDF-neo	bronchial:	n/a
49	chr5:112768887-112768937	HCM	heart:	n/a
50	chr5:112768887-112768937	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000232633	TF binding region
ENSG00000232633	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10428666	0.86[ASN][1000 genomes]
rs10900685	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1116547	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241201	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241206	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738075	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738215	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741916	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11741963	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11748503	0.86[ASN][1000 genomes]
rs11750945	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12152879	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12516418	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12519753	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519818	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12520003	0.88[ASN][1000 genomes]
rs12523255	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1517209	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1586943	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135597	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135608	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17135616	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135630	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1850410	0.90[ASN][1000 genomes]
rs3846721	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4705814	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705817	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705818	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705819	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59954246	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62374372	0.84[ASN][1000 genomes]
rs66490974	0.82[AFR][1000 genomes]
rs66502937	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66583752	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66644309	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66728961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67268709	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67303814	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67764628	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6861786	0.88[ASN][1000 genomes]
rs6864528	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6879800	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6882900	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6883441	0.84[AFR][1000 genomes]
rs72792179	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236478	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73236479	0.96[ASN][1000 genomes]
rs73241779	0.82[AFR][1000 genomes]
rs7707443	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7717000	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9800316	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764400-112769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112764400-112779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112764800-112769000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:112764800-112786800	Weak transcription	NHEK	skin
7	chr5:112766800-112769000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:112768400-112770600	Weak transcription	Right Ventricle	heart
9	chr5:112768800-112769000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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