Variant report

Variant	rs11777746
Chromosome Location	chr8:11204755-11204756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

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	BHLHE40	chr8:11204744-11205031	GM12878	blood:	n/a	n/a
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	ZNF143	chr8:11204343-11205014	K562	blood:	n/a	n/a
12	MAFK	chr8:11204416-11204765	Hela-S3	cervix:	n/a	chr8:11204583-11204598
13	TEAD4	chr8:11204401-11204999	K562	blood:	n/a	n/a
14	POLR2A	chr8:11204528-11205366	HEK293	kidney:	n/a	n/a
15	CUX1	chr8:11204323-11204977	K562	blood:	n/a	n/a
16	JUND	chr8:11204416-11204920	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:11204292-11205726	K562	blood:	n/a	n/a
18	MAX	chr8:11204451-11205720	A549	lung:	n/a	n/a
19	ATF3	chr8:11204406-11204786	K562	blood:	n/a	n/a
20	ZMIZ1	chr8:11204425-11205316	K562	blood:	n/a	n/a
21	MXI1	chr8:11204116-11206215	SK-N-SH	brain:	n/a	chr8:11205597-11205606
22	ZBTB7A	chr8:11204112-11204763	K562	blood:	n/a	chr8:11204559-11204568
23	CTCF	chr8:11204700-11204850	WERI-Rb-1	eye:	n/a	n/a
24	BACH1	chr8:11204167-11204990	K562	blood:	n/a	n/a
25	YY1	chr8:11204743-11205132	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr8:11204366-11205328	K562	blood:	n/a	n/a
27	POLR2A	chr8:11204505-11205734	MCF-7	breast:	n/a	n/a
28	MAX	chr8:11204528-11205278	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF384	chr8:11204470-11204912	K562	blood:	n/a	n/a
30	POLR2A	chr8:11204671-11205099	H1-neurons	neurons:	n/a	n/a
31	MAFF	chr8:11204161-11204976	K562	blood:	n/a	chr8:11204581-11204599
32	MAX	chr8:11204700-11205201	MCF-7	breast:	n/a	n/a
33	CHD2	chr8:11204431-11205036	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr8:11204357-11205336	K562	blood:	n/a	n/a
35	MAX	chr8:11204414-11205871	A549	lung:	n/a	n/a
36	RCOR1	chr8:11204414-11205338	K562	blood:	n/a	n/a
37	JUND	chr8:11204306-11205063	K562	blood:	n/a	n/a
38	POLR2A	chr8:11204398-11205381	K562	blood:	n/a	n/a
39	HMGN3	chr8:11204405-11205642	K562	blood:	n/a	n/a
40	CTCF	chr8:11204480-11204770	K562	blood:	n/a	chr8:11204554-11204567
41	MAFF	chr8:11204385-11204784	HepG2	liver:	n/a	chr8:11204581-11204599
42	TBP	chr8:11204366-11205379	K562	blood:	n/a	n/a
43	HEY1	chr8:11204268-11205414	K562	blood:	n/a	n/a
44	KAP1	chr8:11204611-11204995	HEK293	kidney:	n/a	n/a
45	IRF1	chr8:11204359-11205304	K562	blood:	n/a	n/a
46	CREB1	chr8:11204442-11205160	K562	blood:	n/a	n/a
47	E2F4	chr8:11204506-11205344	K562	blood:	n/a	chr8:11204560-11204569 chr8:11204973-11204983 chr8:11205135-11205142
48	YY1	chr8:11204656-11205505	K562	blood:	n/a	n/a
49	BHLHE40	chr8:11204251-11205108	K562	blood:	n/a	n/a
50	POLR2A	chr8:11204736-11205268	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:

No data

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

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1047950	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10503421	0.82[AMR][1000 genomes]
rs11250130	0.83[EUR][1000 genomes]
rs11781637	0.83[EUR][1000 genomes]
rs11782430	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1435277	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2043510	0.82[AMR][1000 genomes]
rs2246606	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249804	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2250028	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572371	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2572382	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2572385	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2572387	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572404	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2572452	0.81[AMR][1000 genomes]
rs2736264	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2736265	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2736266	0.83[EUR][1000 genomes]
rs2736270	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2736273	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2736278	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736280	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2736282	0.81[AMR][1000 genomes]
rs2736283	0.82[AMR][1000 genomes]
rs2736286	0.81[AMR][1000 genomes]
rs2736287	0.80[AMR][1000 genomes]
rs35418978	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4363158	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6601582	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7816606	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820301	0.81[AMR][1000 genomes]
rs7839307	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs920044	0.83[AMR][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
rs11777746	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs11777746	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

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	chr8:11203800-11206200	Bivalent Enhancer	Placenta	Placenta
4	chr8:11204000-11205000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:11204000-11205000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
6	chr8:11204000-11205800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr8:11204000-11206400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr8:11204200-11204800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:11204200-11204800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr8:11204200-11204800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr8:11204200-11204800	Bivalent/Poised TSS	Ovary	ovary
12	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr8:11204200-11205000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:11204200-11205000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr8:11204200-11205400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:11204200-11205400	Enhancers	Spleen	Spleen
18	chr8:11204200-11205600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:11204200-11205600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:11204200-11205600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:11204200-11205600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11204200-11205800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:11204200-11205800	Active TSS	Brain Substantia Nigra	brain
24	chr8:11204200-11206000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr8:11204200-11206200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:11204200-11206200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr8:11204200-11206400	Active TSS	Brain Anterior Caudate	brain
28	chr8:11204400-11204800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11204400-11204800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr8:11204400-11204800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:11204400-11204800	Bivalent Enhancer	Fetal Brain Male	brain
32	chr8:11204400-11204800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
33	chr8:11204400-11205000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
41	chr8:11204400-11205000	Active TSS	Fetal Heart	heart
42	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
44	chr8:11204400-11205000	Flanking Active TSS	HMEC	breast
45	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr8:11204400-11205000	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr8:11204400-11205200	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr8:11204400-11205200	Active TSS	A549	lung
49	chr8:11204400-11205400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr8:11204400-11205400	Bivalent/Poised TSS	Fetal Brain Female	brain

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