Variant report

Variant	rs11784458
Chromosome Location	chr8:11204184-11204185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:11204116-11206215	SK-N-SH	brain:	n/a	chr8:11205597-11205606
2	ZBTB7A	chr8:11204112-11204763	K562	blood:	n/a	chr8:11204559-11204568
3	BACH1	chr8:11204167-11204990	K562	blood:	n/a	n/a
4	MAFF	chr8:11204161-11204976	K562	blood:	n/a	chr8:11204581-11204599
5	MAFK	chr8:11204163-11205064	H1-hESC	embryonic stem cell:	n/a	chr8:11204583-11204598
6	MAFK	chr8:11204031-11205133	K562	blood:	n/a	chr8:11204583-11204598
7	POLR2A	chr8:11203581-11205779	K562	blood:	n/a	n/a
8	MAFK	chr8:11204165-11204994	IMR90	lung:	n/a	chr8:11204583-11204598
9	POLR2A	chr8:11204097-11205517	K562	blood:	n/a	n/a
10	POLR2A	chr8:11203560-11205332	K562	blood:	n/a	n/a
11	NR2F2	chr8:11204067-11204957	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11195675..11197986-chr8:11203854..11205997,2	MCF-7	breast:
2	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
3	chr8:11193886..11197724-chr8:11199871..11205497,8	K562	blood:
4	chr8:11203206..11204716-chr8:11251549..11254468,2	K562	blood:
5	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:
6	chr8:11202880..11204738-chr8:11213241..11216075,2	K562	blood:
7	chr8:11202546..11204675-chr8:11207385..11211000,3	MCF-7	breast:

Variant related genes	Relation type
TDH	TF binding region
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10096194	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10098322	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10110557	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11250127	0.81[AFR][1000 genomes]
rs11250129	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774673	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11775635	0.83[AFR][1000 genomes]
rs11781375	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782706	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991153	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994376	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248147	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13250270	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13253016	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13253735	0.80[AMR][1000 genomes]
rs13263127	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13266233	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13270679	0.81[AFR][1000 genomes]
rs1435273	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17741537	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17797894	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1897950	0.82[AFR][1000 genomes]
rs1897951	0.82[AFR][1000 genomes]
rs1962656	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060456	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060457	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060459	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293855	0.89[AFR][1000 genomes]
rs2293856	0.89[AFR][1000 genomes]
rs2293858	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293859	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293860	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2736277	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28507159	0.84[AFR][1000 genomes]
rs3174048	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34237267	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35392635	0.83[AFR][1000 genomes]
rs35631424	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35687566	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35747588	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779891	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3808509	0.81[AFR][1000 genomes]
rs4394351	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4413734	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4568582	0.81[AFR][1000 genomes]
rs5029571	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58283816	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62488721	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601580	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6988922	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6990563	0.80[EUR][1000 genomes]
rs6991606	0.81[AFR][1000 genomes]
rs6995404	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6996368	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7003241	0.84[AFR][1000 genomes]
rs7005469	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7008205	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016671	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7815463	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7815802	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7815804	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7816601	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7816636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817658	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819395	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7820895	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828711	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831346	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7833966	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834139	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837036	0.85[AFR][1000 genomes]
rs7838897	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7839053	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][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	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
11	nsv890355	chr8:11202154-11219334	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11784458	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs11784458	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11194800-11204200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:11202800-11204400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11202800-11204400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:11202800-11206200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
6	chr8:11203000-11204200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr8:11203000-11204400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11203600-11204200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:11203600-11204200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr8:11203600-11204400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr8:11203800-11204200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11203800-11204200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr8:11203800-11204400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:11203800-11204400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr8:11203800-11204400	Enhancers	Fetal Heart	heart
16	chr8:11203800-11204600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:11203800-11204600	Bivalent Enhancer	Fetal Lung	lung
18	chr8:11203800-11204600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr8:11203800-11206200	Bivalent Enhancer	Placenta	Placenta
20	chr8:11204000-11204200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr8:11204000-11204200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:11204000-11204200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr8:11204000-11204200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:11204000-11204200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr8:11204000-11204200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr8:11204000-11204200	Bivalent/Poised TSS	GM12878-XiMat	blood
27	chr8:11204000-11204400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr8:11204000-11204400	Flanking Active TSS	K562	blood
29	chr8:11204000-11204600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr8:11204000-11204600	Weak transcription	Gastric	stomach
31	chr8:11204000-11205000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:11204000-11205000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr8:11204000-11205800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr8:11204000-11206400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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