Variant report

Variant	rs4131437
Chromosome Location	chr5:114369865-114369866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:114369597-114369915	K562	blood:	n/a	n/a
2	CTCF	chr5:114369655-114369875	GM12878	blood:	n/a	n/a
3	CTCF	chr5:114369642-114369881	GM19238	blood:	n/a	n/a
4	CTCF	chr5:114369623-114369908	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:114369625-114369905	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:114369720-114369870	NHEK	skin:	n/a	n/a
7	CTCF	chr5:114369635-114369893	GM19240	blood:	n/a	n/a
8	CTCF	chr5:114369780-114369930	HVMF	connective:	n/a	n/a
9	CTCF	chr5:114369720-114369870	GM12874	blood:	n/a	n/a
10	CTCF	chr5:114369644-114369873	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr5:114369601-114369951	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr5:114369480-114369987	HCT-116	colon:	n/a	n/a
13	RAD21	chr5:114369549-114369972	HepG2	liver:	n/a	n/a
14	CTCF	chr5:114369658-114369868	Gliobla	brain:	n/a	n/a
15	CTCF	chr5:114369650-114369887	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr5:114369469-114369996	A549	lung:	n/a	n/a
17	RAD21	chr5:114369502-114370000	A549	lung:	n/a	n/a
18	CTCF	chr5:114369647-114369883	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:114369640-114369886	Fibrobl	skin:	n/a	n/a
20	CTCF	chr5:114369630-114369896	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:114369720-114369870	GM12865	blood:	n/a	n/a
22	CTCF	chr5:114369648-114369877	LNCaP	prostate:	n/a	n/a
23	MAX	chr5:114369566-114369929	NB4	blood:	n/a	n/a
24	CTCF	chr5:114369549-114369887	HepG2	liver:	n/a	n/a
25	CTCF	chr5:114369630-114369897	ProgFib	skin:	n/a	n/a
26	SMC3	chr5:114369531-114369912	GM12878	blood:	n/a	n/a
27	SMC3	chr5:114369621-114369873	HepG2	liver:	n/a	n/a
28	CTCF	chr5:114369618-114369902	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:114369653-114369882	GM12891	blood:	n/a	n/a
30	CTCF	chr5:114369740-114369890	HMF	breast:	n/a	n/a
31	CTCF	chr5:114369720-114369870	GM12878	blood:	n/a	n/a
32	RAD21	chr5:114369431-114369987	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:114369532-114370117	A549	lung:	n/a	n/a
34	CTCF	chr5:114369550-114369991	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:114369740-114369890	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr5:114369639-114369877	GM12892	blood:	n/a	n/a
37	RAD21	chr5:114369540-114369925	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:114369809-114369878	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr5:114369560-114369904	GM12878	blood:	n/a	n/a
40	CTCF	chr5:114369566-114369944	GM12878	blood:	n/a	n/a
41	RAD21	chr5:114369644-114369887	A549	lung:	n/a	n/a
42	RAD21	chr5:114369526-114369983	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr5:114369416-114370095	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr5:114369572-114369927	HepG2	liver:	n/a	n/a
45	RAD21	chr5:114369612-114369950	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr5:114369637-114369880	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:114369609-114369869	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:114369740-114369890	RPTEC	kidney:	n/a	n/a
49	RAD21	chr5:114369458-114369940	HCT-116	colon:	n/a	n/a
50	CTCF	chr5:114369532-114370027	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:113785328..113785951-chr5:114369489..114370463,2	MCF-7	breast:
2	chr5:114138711..114139387-chr5:114369334..114369873,2	MCF-7	breast:
3	chr5:114139161..114139984-chr5:114369361..114370136,2	MCF-7	breast:
4	chr5:114133331..114134215-chr5:114369304..114370183,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251132	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10039629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs10055823	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10061081	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10061288	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10077885	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10078015	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10477526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241305	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11954634	0.86[EUR][1000 genomes]
rs13360458	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1446074	0.82[ASN][1000 genomes]
rs1838747	0.87[ASN][1000 genomes]
rs2121188	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2921618	0.83[ASN][1000 genomes]
rs2921625	0.83[ASN][1000 genomes]
rs2921626	0.84[ASN][1000 genomes]
rs2921629	0.83[ASN][1000 genomes]
rs2974505	0.82[ASN][1000 genomes]
rs2974506	0.82[ASN][1000 genomes]
rs2974507	0.83[ASN][1000 genomes]
rs2974516	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2974610	0.83[ASN][1000 genomes]
rs2974612	0.84[ASN][1000 genomes]
rs4073838	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4073839	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075509	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075510	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4076057	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235764	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235765	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235768	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235769	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235770	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4286654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312873	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4360034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4382158	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4392610	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4421095	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4435857	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4485921	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4485922	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4489055	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4499823	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4554207	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705696	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705720	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6869551	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6878888	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7722841	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs966791	0.83[ASN][1000 genomes]
rs995339	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1030649	chr5:114324590-114390181	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1029048	chr5:114345201-114408136	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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