Variant report

Variant	rs11781375
Chromosome Location	chr8:11204532-11204533
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	POLR2A	chr8:11204345-11205413	K562	blood:	n/a	n/a
2	MAFK	chr8:11204398-11204822	HepG2	liver:	n/a	chr8:11204583-11204598
3	TBP	chr8:11204434-11204919	H1-hESC	embryonic stem cell:	n/a	n/a
4	IRF1	chr8:11204343-11205354	K562	blood:	n/a	n/a
5	TRIM28	chr8:11204376-11205079	K562	blood:	n/a	n/a
6	KAP1	chr8:11204348-11204983	U2OS	brain:	n/a	n/a
7	CTCF	chr8:11204480-11204630	GM12874	blood:	n/a	chr8:11204554-11204567
8	SIN3AK20	chr8:11204357-11205037	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:11204443-11204830	K562	blood:	n/a	n/a
10	ARID3A	chr8:11204513-11204770	K562	blood:	n/a	n/a
11	CTCF	chr8:11204403-11204696	K562	blood:	n/a	chr8:11204554-11204567
12	ZNF143	chr8:11204343-11205014	K562	blood:	n/a	n/a
13	CTCF	chr8:11204500-11204650	HMEC	breast:	n/a	chr8:11204554-11204567
14	MAFK	chr8:11204416-11204765	Hela-S3	cervix:	n/a	chr8:11204583-11204598
15	TEAD4	chr8:11204401-11204999	K562	blood:	n/a	n/a
16	POLR2A	chr8:11204528-11205366	HEK293	kidney:	n/a	n/a
17	CTCF	chr8:11204440-11204590	MCF-7	breast:	n/a	chr8:11204554-11204567
18	CUX1	chr8:11204323-11204977	K562	blood:	n/a	n/a
19	JUND	chr8:11204416-11204920	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr8:11204440-11204590	HPAF	blood vessel:	n/a	chr8:11204554-11204567
21	POLR2A	chr8:11204292-11205726	K562	blood:	n/a	n/a
22	ZNF143	chr8:11204500-11204609	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:11204440-11204590	GM12872	blood:	n/a	chr8:11204554-11204567
24	MAX	chr8:11204451-11205720	A549	lung:	n/a	n/a
25	CTCF	chr8:11204512-11204619	LNCaP	prostate:	n/a	chr8:11204554-11204567
26	ATF3	chr8:11204406-11204786	K562	blood:	n/a	n/a
27	EGR1	chr8:11204374-11204707	K562	blood:	n/a	n/a
28	ZMIZ1	chr8:11204425-11205316	K562	blood:	n/a	n/a
29	MXI1	chr8:11204116-11206215	SK-N-SH	brain:	n/a	chr8:11205597-11205606
30	ZBTB7A	chr8:11204112-11204763	K562	blood:	n/a	chr8:11204559-11204568
31	CTCF	chr8:11204481-11204649	K562	blood:	n/a	chr8:11204554-11204567
32	JUND	chr8:11204480-11204647	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:11204484-11204648	NHEK	skin:	n/a	chr8:11204554-11204567
34	BACH1	chr8:11204167-11204990	K562	blood:	n/a	n/a
35	CTCF	chr8:11204420-11204570	GM12870	blood:	n/a	chr8:11204554-11204567
36	POLR2A	chr8:11204366-11205328	K562	blood:	n/a	n/a
37	CTCF	chr8:11204480-11204630	GM12865	blood:	n/a	chr8:11204554-11204567
38	CEBPB	chr8:11204360-11204656	K562	blood:	n/a	n/a
39	POLR2A	chr8:11204505-11205734	MCF-7	breast:	n/a	n/a
40	CTCF	chr8:11204420-11204570	GM12873	blood:	n/a	chr8:11204554-11204567
41	CTCF	chr8:11204480-11204630	BE2_C	brain:	n/a	chr8:11204554-11204567
42	YY1	chr8:11204415-11204754	K562	blood:	n/a	n/a
43	RAD21	chr8:11204430-11204716	K562	blood:	n/a	n/a
44	MAX	chr8:11204528-11205278	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr8:11204492-11204717	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF384	chr8:11204470-11204912	K562	blood:	n/a	n/a
47	MAFF	chr8:11204161-11204976	K562	blood:	n/a	chr8:11204581-11204599
48	CHD2	chr8:11204431-11205036	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr8:11204480-11204630	WERI-Rb-1	eye:	n/a	chr8:11204554-11204567
50	CTCF	chr8:11204420-11204570	HBMEC	blood vessel:	n/a	chr8:11204554-11204567

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	chr8:11204525..11206554-chr8:11212652..11215291,3	MCF-7	breast:
5	chr8:11203206..11204716-chr8:11251549..11254468,2	K562	blood:
6	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:
7	chr8:11202880..11204738-chr8:11213241..11216075,2	K562	blood:
8	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: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10096194	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10098322	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10110557	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11250129	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774673	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11782706	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11784458	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991153	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994376	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248147	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13250270	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13253016	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13253735	0.80[AMR][1000 genomes]
rs13263127	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13266233	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1435273	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17741537	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17797894	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1962656	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060456	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060457	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060459	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293855	0.82[AFR][1000 genomes]
rs2293856	0.82[AFR][1000 genomes]
rs2293858	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293859	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293860	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2736277	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3174048	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34237267	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35631424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35687566	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35747588	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779891	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4394351	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4413734	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5029571	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58283816	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62488721	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601580	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6988922	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6995404	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6996368	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005469	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7008205	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016671	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7815463	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815802	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815804	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7816601	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7816636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817658	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819395	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7820895	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828711	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7831346	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7833966	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7834139	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7838897	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7839053	0.98[AMR][1000 genomes];0.96[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
rs11781375	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs11781375	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11202800-11206200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
3	chr8:11203800-11204600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:11203800-11204600	Bivalent Enhancer	Fetal Lung	lung
5	chr8:11203800-11204600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr8:11203800-11206200	Bivalent Enhancer	Placenta	Placenta
7	chr8:11204000-11204600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr8:11204000-11204600	Weak transcription	Gastric	stomach
9	chr8:11204000-11205000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:11204000-11205000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr8:11204000-11205800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr8:11204000-11206400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr8:11204200-11204600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:11204200-11204600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr8:11204200-11204600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11204200-11204600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:11204200-11204600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr8:11204200-11204600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:11204200-11204800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:11204200-11204800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr8:11204200-11204800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr8:11204200-11204800	Bivalent/Poised TSS	Ovary	ovary
23	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr8:11204200-11205000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr8:11204200-11205400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:11204200-11205400	Enhancers	Spleen	Spleen
29	chr8:11204200-11205600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:11204200-11205600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11204200-11205600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:11204200-11205600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:11204200-11205800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:11204200-11205800	Active TSS	Brain Substantia Nigra	brain
35	chr8:11204200-11206000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr8:11204200-11206200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:11204200-11206200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr8:11204200-11206400	Active TSS	Brain Anterior Caudate	brain
39	chr8:11204400-11204600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:11204400-11204600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:11204400-11204600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:11204400-11204600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:11204400-11204600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:11204400-11204600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr8:11204400-11204600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:11204400-11204600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:11204400-11204600	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr8:11204400-11204600	Bivalent Enhancer	Liver	Liver
49	chr8:11204400-11204600	Bivalent Enhancer	Colon Smooth Muscle	Colon
50	chr8:11204400-11204600	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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