Variant report

Variant	rs7005469
Chromosome Location	chr8:11194457-11194458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:11194349-11194700	K562	blood:	n/a	n/a
2	JUND	chr8:11194316-11194620	HepG2	liver:	n/a	chr8:11194472-11194483
3	CTCF	chr8:11194420-11194570	HPAF	blood vessel:	n/a	n/a
4	EP300	chr8:11193896-11194769	K562	blood:	n/a	n/a
5	GATA3	chr8:11193611-11194544	MCF-7	breast:	n/a	n/a
6	JUN	chr8:11193174-11194821	K562	blood:	n/a	n/a
7	STAT5A	chr8:11194311-11194724	K562	blood:	n/a	n/a
8	RCOR1	chr8:11193987-11194760	K562	blood:	n/a	n/a
9	MYC	chr8:11194374-11194700	K562	blood:	n/a	n/a
10	ZNF143	chr8:11194254-11194702	K562	blood:	n/a	n/a
11	CTCF	chr8:11194426-11194666	K562	blood:	n/a	n/a
12	JUND	chr8:11194146-11194837	SK-N-SH	brain:	n/a	chr8:11194472-11194483
13	RAD21	chr8:11194418-11194636	K562	blood:	n/a	n/a
14	TAL1	chr8:11194332-11194745	K562	blood:	n/a	n/a
15	GATA3	chr8:11193764-11194474	SK-N-SH	brain:	n/a	n/a
16	FOS	chr8:11194077-11194644	MCF10A-Er-Src	breast:	n/a	n/a
17	TBL1XR1	chr8:11194325-11194761	K562	blood:	n/a	n/a
18	CTCF	chr8:11194400-11194550	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr8:11194344-11194733	K562	blood:	n/a	n/a
20	UBTF	chr8:11194424-11194717	K562	blood:	n/a	n/a
21	ZMIZ1	chr8:11194306-11194806	K562	blood:	n/a	n/a
22	CCNT2	chr8:11194254-11194791	K562	blood:	n/a	n/a
23	CTCF	chr8:11194391-11194771	K562	blood:	n/a	n/a
24	ZNF384	chr8:11194357-11194708	K562	blood:	n/a	n/a
25	FOS	chr8:11194294-11194644	MCF10A-Er-Src	breast:	n/a	n/a
26	JUND	chr8:11194294-11194670	Hela-S3	cervix:	n/a	chr8:11194472-11194483
27	SMC3	chr8:11194400-11194623	K562	blood:	n/a	n/a
28	BACH1	chr8:11194334-11194619	K562	blood:	n/a	n/a
29	JUN	chr8:11193954-11194957	K562	blood:	n/a	n/a
30	CBX3	chr8:11194072-11194768	K562	blood:	n/a	n/a
31	JUND	chr8:11193957-11194762	K562	blood:	n/a	chr8:11194472-11194483
32	MAFK	chr8:11194204-11194716	K562	blood:	n/a	n/a
33	RAD21	chr8:11194436-11194681	K562	blood:	n/a	n/a
34	ATF1	chr8:11194325-11194713	K562	blood:	n/a	n/a
35	FOSL2	chr8:11194211-11194738	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr8:11194400-11194550	GM12871	blood:	n/a	n/a
37	MAFF	chr8:11194227-11194716	K562	blood:	n/a	n/a
38	FOS	chr8:11193963-11194645	MCF10A-Er-Src	breast:	n/a	n/a
39	JUN	chr8:11194430-11194536	HepG2	liver:	n/a	n/a
40	MAZ	chr8:11194381-11194742	K562	blood:	n/a	n/a
41	FOS	chr8:11194307-11194645	MCF10A-Er-Src	breast:	n/a	n/a
42	GATA3	chr8:11193790-11194468	SK-N-SH	brain:	n/a	n/a
43	MYC	chr8:11194444-11194543	K562	blood:	n/a	n/a
44	ARID3A	chr8:11194074-11194871	K562	blood:	n/a	n/a
45	TEAD4	chr8:11193863-11194832	K562	blood:	n/a	n/a
46	NFIC	chr8:11193893-11194469	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr8:11194392-11194730	K562	blood:	n/a	n/a
48	GATA2	chr8:11193934-11194810	K562	blood:	n/a	n/a
49	CTCF	chr8:11194440-11194590	HMF	breast:	n/a	n/a
50	ATF3	chr8:11194299-11194719	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:11192721..11196103-chr8:11203012..11206655,6	MCF-7	breast:
2	chr8:11194174..11194960-chr8:11325192..11325823,2	K562	blood:
3	chr8:11193886..11197724-chr8:11199871..11205497,8	K562	blood:
4	chr8:11182223..11183959-chr8:11192800..11194689,2	K562	blood:

No data

Variant related genes	Relation type
TDH	TF binding region
ENSG00000154316	Chromatin interaction
ENSG00000246477	Chromatin interaction
ENSG00000255020	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10096194	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110557	0.96[CEU][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10503421	0.96[CEU][hapmap]
rs11250127	0.84[CEU][hapmap];0.92[YRI][hapmap]
rs11250129	0.92[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11774673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11775635	0.81[AFR][1000 genomes]
rs11781375	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11782706	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11784458	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11784544	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11991153	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11994376	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12681987	0.88[CEU][hapmap]
rs13248147	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13250270	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13253016	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13253735	0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13263127	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13266233	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1435273	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1435277	0.81[CEU][hapmap]
rs17741537	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17797443	0.81[CEU][hapmap];0.80[YRI][hapmap]
rs17797894	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1897950	0.81[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs1897951	0.81[AFR][1000 genomes]
rs1962656	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2060456	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060457	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2060459	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060465	0.81[CEU][hapmap];0.82[CHB][hapmap];0.86[YRI][hapmap]
rs2164272	0.81[CEU][hapmap];0.81[CHB][hapmap];0.86[YRI][hapmap]
rs2164273	0.81[CEU][hapmap]
rs2293855	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2293856	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2293858	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2293859	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2293860	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2572371	0.92[CEU][hapmap]
rs2572452	0.88[CEU][hapmap]
rs2736270	0.81[CEU][hapmap]
rs2736277	0.84[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs2736280	0.84[CEU][hapmap]
rs2736282	0.88[CEU][hapmap]
rs2736283	0.88[CEU][hapmap]
rs28507159	0.83[AFR][1000 genomes]
rs3174048	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34237267	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35392635	0.81[AFR][1000 genomes]
rs35631424	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35687566	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35747588	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3779891	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808509	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3808513	0.81[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs3808518	0.81[CHB][hapmap];0.92[YRI][hapmap]
rs4394351	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4413734	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4568582	0.81[CEU][hapmap];0.92[YRI][hapmap]
rs5029571	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58283816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62488721	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6601578	1.00[YRI][hapmap]
rs6601580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601582	0.81[CEU][hapmap]
rs6985146	0.81[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs6985460	0.81[CEU][hapmap]
rs6988922	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990563	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6991606	0.81[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6995404	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6996368	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7003241	0.83[AFR][1000 genomes]
rs7008205	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7016671	0.96[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7815463	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815802	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815804	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816601	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7816636	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7817658	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7819395	0.96[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7820895	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7828711	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7831346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833966	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7834139	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7837036	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7838897	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839053	0.96[CEU][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7005469	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs7005469	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11193400-11194800	Enhancers	NHEK	skin
2	chr8:11193600-11194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:11193600-11194800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:11193600-11194800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:11193600-11194800	Enhancers	HMEC	breast
6	chr8:11194000-11194800	Enhancers	A549	lung
7	chr8:11194200-11194800	Enhancers	NH-A	brain
8	chr8:11194200-11194800	Enhancers	Osteobl	bone
9	chr8:11194200-11195000	Enhancers	Hela-S3	cervix
10	chr8:11194200-11195000	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links