Variant report

Variant	rs11778804
Chromosome Location	chr8:39853325-39853326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:201)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:39853225-39853529	A549	lung:	n/a	n/a
2	SP1	chr8:39853118-39853599	A549	lung:	n/a	n/a
3	HDAC2	chr8:39853295-39853517	MCF-7	breast:	n/a	n/a
4	RAD21	chr8:39853215-39853581	IMR90	lung:	n/a	n/a
5	CTCF	chr8:39853112-39853639	A549	lung:	n/a	n/a
6	CTCF	chr8:39853222-39853508	GM12878	blood:	n/a	n/a
7	CTCF	chr8:39853228-39853486	ProgFib	skin:	n/a	n/a
8	GATA3	chr8:39853286-39853456	T-47D	breast:	n/a	n/a
9	YY1	chr8:39853295-39853466	GM12878	blood:	n/a	n/a
10	CTCF	chr8:39853320-39853470	AoAF	blood vessel:	n/a	n/a
11	RFX5	chr8:39853232-39853492	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:39853300-39853450	NHLF	lung:	n/a	n/a
13	RAD21	chr8:39853110-39853499	MCF-7	breast:	n/a	n/a
14	RAD21	chr8:39853279-39853429	K562	blood:	n/a	n/a
15	CTCF	chr8:39853232-39853495	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr8:39853229-39853493	GM12892	blood:	n/a	n/a
17	FOXA1	chr8:39853257-39853469	T-47D	breast:	n/a	n/a
18	CTCF	chr8:39853300-39853450	GM12865	blood:	n/a	n/a
19	CTCF	chr8:39853300-39853450	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr8:39853300-39853450	GM12864	blood:	n/a	n/a
21	RAD21	chr8:39853181-39853597	HCT-116	colon:	n/a	n/a
22	ZNF217	chr8:39853237-39853524	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:39853285-39853466	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr8:39853320-39853470	BJ	skin:	n/a	n/a
25	CTCF	chr8:39853262-39853499	A549	lung:	n/a	n/a
26	RAD21	chr8:39853269-39853468	GM12878	blood:	n/a	n/a
27	RAD21	chr8:39853174-39853524	A549	lung:	n/a	n/a
28	CTCF	chr8:39853320-39853470	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr8:39853259-39853488	GM13976	blood:	n/a	n/a
30	CTCF	chr8:39853227-39853517	GM12891	blood:	n/a	n/a
31	CTCF	chr8:39853320-39853470	AG04450	lung:	n/a	n/a
32	CTCF	chr8:39853253-39853501	Kidney_OC	kidney:	n/a	n/a
33	POLR2A	chr8:39853209-39853386	K562	blood:	n/a	n/a
34	CTCF	chr8:39853233-39853469	HepG2	liver:	n/a	n/a
35	CTCF	chr8:39853300-39853450	AG09309	skin:	n/a	n/a
36	CTCF	chr8:39853248-39853483	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr8:39853296-39853558	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr8:39853190-39853579	GM12878	blood:	n/a	n/a
39	CTCF	chr8:39853237-39853484	MCF-7	breast:	n/a	n/a
40	CTCFL	chr8:39853309-39853424	K562	blood:	n/a	n/a
41	SMC3	chr8:39853222-39853525	GM12878	blood:	n/a	n/a
42	CTCF	chr8:39853187-39853551	T-47D	breast:	n/a	n/a
43	CTCF	chr8:39853180-39853330	HCT-116	colon:	n/a	n/a
44	CTCF	chr8:39853320-39853470	GM06990	blood:	n/a	n/a
45	CTCF	chr8:39853220-39853510	WI-38	lung:	n/a	n/a
46	FOXM1	chr8:39853222-39853530	GM12878	blood:	n/a	n/a
47	CTCF	chr8:39853242-39853491	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:39853204-39853533	K562	blood:	n/a	n/a
49	CTCF	chr8:39853240-39853495	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr8:39853239-39853492	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000253939	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10099877	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107570	0.93[ASN][1000 genomes]
rs10109853	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10808930	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10808931	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11990433	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12682026	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12682031	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13276334	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13280191	0.86[AFR][1000 genomes]
rs4236912	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4736968	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4736969	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7017498	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs877290	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs877291	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:39849000-39853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
7	chr8:39851200-39853600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:39851200-39853600	Weak transcription	A549	lung
9	chr8:39851400-39853800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:39851400-39856000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:39852200-39853600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:39853000-39854000	Enhancers	Lung	lung

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