Variant report

Variant	rs1429441
Chromosome Location	chr8:112428560-112428561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:112428440-112428590	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr8:112428455-112428641	Gliobla	brain:	n/a	n/a
3	CTCF	chr8:112428441-112428593	LNCaP	prostate:	n/a	n/a
4	CTCF	chr8:112428340-112428685	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:112428480-112428630	HepG2	liver:	n/a	n/a
6	CTCF	chr8:112428417-112428656	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:112428495-112428620	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:112428492-112428601	A549	lung:	n/a	n/a
9	CTCF	chr8:112428460-112428610	GM12878	blood:	n/a	n/a
10	CTCF	chr8:112428471-112428599	GM12878	blood:	n/a	n/a
11	PBX3	chr8:112428483-112428624	GM12878	blood:	n/a	n/a
12	CTCF	chr8:112428520-112428670	GM12872	blood:	n/a	n/a
13	MAFK	chr8:112428516-112428638	HepG2	liver:	n/a	n/a
14	RAD21	chr8:112428463-112428663	HepG2	liver:	n/a	n/a
15	CTCF	chr8:112428480-112428618	GM19238	blood:	n/a	n/a
16	CTCF	chr8:112428460-112428610	GM12873	blood:	n/a	n/a
17	RAD21	chr8:112428337-112428721	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr8:112428416-112428573	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr8:112428500-112428650	HMEC	breast:	n/a	n/a
20	CTCF	chr8:112428420-112428570	A549	lung:	n/a	n/a
21	CTCF	chr8:112428440-112428590	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr8:112428420-112428570	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr8:112428334-112428693	GM12878	blood:	n/a	n/a
24	CTCF	chr8:112428460-112428610	K562	blood:	n/a	n/a
25	CTCF	chr8:112428440-112428590	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr8:112428480-112428630	GM12866	blood:	n/a	n/a
27	CTCF	chr8:112428475-112428616	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr8:112428480-112428630	HCPEpiC	choroid plexus:	n/a	n/a
29	RAD21	chr8:112428377-112428798	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr8:112428440-112428590	GM12873	blood:	n/a	n/a
31	CTCF	chr8:112428460-112428610	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr8:112428481-112428620	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:112428500-112428650	RPTEC	kidney:	n/a	n/a
34	CTCF	chr8:112428480-112428630	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr8:112428480-112428630	HEK293	kidney:	n/a	n/a
36	CTCF	chr8:112428420-112428570	HCT-116	colon:	n/a	n/a
37	CTCF	chr8:112428480-112428630	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr8:112428420-112428570	NHEK	skin:	n/a	n/a
39	CTCF	chr8:112428420-112428570	HepG2	liver:	n/a	n/a
40	RAD21	chr8:112428377-112428649	HepG2	liver:	n/a	n/a
41	CTCF	chr8:112428420-112428570	GM12864	blood:	n/a	n/a
42	CTCF	chr8:112428501-112428585	GM12892	blood:	n/a	n/a
43	CTCF	chr8:112428480-112428630	BE2_C	brain:	n/a	n/a
44	CTCF	chr8:112428430-112428626	LNCaP	prostate:	n/a	n/a
45	CTCF	chr8:112428509-112428597	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:112428420-112428570	HL-60	blood:	n/a	n/a
47	CTCF	chr8:112428480-112428630	GM12871	blood:	n/a	n/a
48	CTCF	chr8:112428419-112428587	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr8:112428460-112428610	NB4	blood:	n/a	n/a
50	CTCF	chr8:112428440-112428590	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000253434	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10093778	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10107698	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1118214	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11779251	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11991016	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13271155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272590	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1813175	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2217374	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2606203	0.81[AFR][1000 genomes]
rs2717186	0.82[ASN][1000 genomes]
rs4546694	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469352	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6981776	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983489	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6996737	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001782	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891311	chr8:112088322-112604086	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv465763	chr8:112325064-112712038	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv611902	chr8:112325064-112712038	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1031144	chr8:112327722-112558646	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1027249	chr8:112327722-112711706	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv539721	chr8:112327722-112711706	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv891313	chr8:112359706-112548351	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1028518	chr8:112382141-112459890	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1026097	chr8:112382141-112714042	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv984551	chr8:112391116-112436694	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1017231	chr8:112393019-112711706	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv433251	chr8:112400841-112455664	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112428200-112428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:112428200-112428800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:112428200-112428800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:112428200-112428800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:112428200-112429000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr8:112428400-112428600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:112428400-112428800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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