Variant report

Variant	rs9333008
Chromosome Location	chr1:47400627-47400628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:47400520-47400670	HFF-Myc	foreskin:	n/a	n/a
2	CTCF	chr1:47400577-47400815	GM19238	blood:	n/a	n/a
3	RAD21	chr1:47400571-47400847	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr1:47400373-47400919	SK-N-SH	brain:	n/a	chr1:47400399-47400412
5	CTCF	chr1:47400539-47400822	MCF-7	breast:	n/a	n/a
6	RAD21	chr1:47400502-47400854	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF143	chr1:47400603-47400772	K562	blood:	n/a	n/a
8	TEAD4	chr1:47400510-47400955	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr1:47400424-47400908	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:47400551-47400818	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:47400611-47400768	HepG2	liver:	n/a	n/a
12	SMC3	chr1:47400570-47400830	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:47400550-47400824	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:47400500-47400650	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr1:47400620-47400770	GM12875	blood:	n/a	n/a
16	CTCF	chr1:47400620-47400770	NB4	blood:	n/a	n/a
17	RAD21	chr1:47400541-47400849	HepG2	liver:	n/a	n/a
18	CTCF	chr1:47400608-47400790	SK-N-SH_RA	brain:	n/a	n/a
19	FOSL2	chr1:47400551-47400913	HepG2	liver:	n/a	n/a
20	CTCF	chr1:47400600-47400750	GM12873	blood:	n/a	n/a
21	CTCF	chr1:47400564-47400834	ECC-1	luminal epithelium:	n/a	n/a
22	RAD21	chr1:47400580-47400852	HepG2	liver:	n/a	n/a
23	CTCF	chr1:47400620-47400770	GM12864	blood:	n/a	n/a
24	CTCF	chr1:47400542-47400803	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr1:47400583-47400853	LNCaP	prostate:	n/a	n/a
26	CTCF	chr1:47400572-47400807	ProgFib	skin:	n/a	n/a
27	CTCF	chr1:47400625-47400777	A549	lung:	n/a	n/a
28	SMC3	chr1:47400440-47400908	SK-N-SH	brain:	n/a	n/a
29	SMC3	chr1:47400596-47400821	K562	blood:	n/a	n/a
30	CTCF	chr1:47400567-47400858	K562	blood:	n/a	n/a
31	RAD21	chr1:47400492-47400864	HCT-116	colon:	n/a	n/a
32	CTCF	chr1:47400602-47400849	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr1:47400620-47400770	GM12869	blood:	n/a	n/a
34	TEAD4	chr1:47400514-47400903	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:47400593-47400816	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr1:47400520-47400670	GM12870	blood:	n/a	n/a
37	CTCF	chr1:47400555-47400842	Gliobla	brain:	n/a	n/a
38	RAD21	chr1:47400482-47400857	HCT-116	colon:	n/a	n/a
39	RAD21	chr1:47400568-47400836	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:47400540-47400830	GM12867	blood:	n/a	n/a
41	CTCF	chr1:47400559-47400831	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:47400558-47400851	K562	blood:	n/a	n/a
43	CTCF	chr1:47400396-47400872	A549	lung:	n/a	chr1:47400399-47400412
44	CTCF	chr1:47400492-47400847	HCT-116	colon:	n/a	n/a
45	CTCF	chr1:47400500-47400650	BE2_C	brain:	n/a	n/a
46	CTCF	chr1:47400566-47400836	NHEK	skin:	n/a	n/a
47	CTCF	chr1:47400603-47400815	SK-N-SH_RA	brain:	n/a	n/a
48	TCF12	chr1:47400619-47400815	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:47400620-47400770	HEK293	kidney:	n/a	n/a
50	RAD21	chr1:47400553-47400927	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
CYP4A11	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs45527338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45568538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4660984	1.00[AMR][1000 genomes]
rs56716388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58437494	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58501789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58867903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494771	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60785285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284575	1.00[AMR][1000 genomes]
rs6692757	1.00[AMR][1000 genomes]
rs72886530	1.00[AMR][1000 genomes]
rs72888469	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890348	1.00[AMR][1000 genomes]
rs72890351	1.00[AMR][1000 genomes]
rs72890355	1.00[AMR][1000 genomes]
rs7522638	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332997	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv945928	chr1:47392738-47414613	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47400400-47400800	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:47400600-47401600	Weak transcription	Liver	Liver

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