Variant report

Variant	rs11691073
Chromosome Location	chr2:172182957-172182958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:172182704-172183135	GM12878	blood:	n/a	n/a
2	MTA3	chr2:172182340-172183243	GM12878	blood:	n/a	n/a
3	RCOR1	chr2:172182837-172183457	GM12878	blood:	n/a	n/a
4	STAT1	chr2:172182911-172183095	GM12878	blood:	n/a	n/a
5	SMC3	chr2:172182579-172183345	GM12878	blood:	n/a	n/a
6	ATF2	chr2:172182437-172183219	GM12878	blood:	n/a	n/a
7	NFATC1	chr2:172182416-172183255	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:172182706-172183054	GM12878	blood:	n/a	n/a
9	FOXM1	chr2:172182440-172183209	GM12878	blood:	n/a	n/a
10	NFIC	chr2:172182366-172183506	GM12878	blood:	n/a	n/a
11	EP300	chr2:172182604-172183361	GM12878	blood:	n/a	n/a
12	RUNX3	chr2:172182443-172183181	GM12878	blood:	n/a	n/a
13	EP300	chr2:172182747-172183294	GM12878	blood:	n/a	n/a
14	IKZF1	chr2:172182487-172183322	GM12878	blood:	n/a	n/a
15	MTA3	chr2:172182541-172183140	GM12878	blood:	n/a	n/a
16	RUNX3	chr2:172182406-172183482	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr2:172182687-172183102	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:172182537-172183419	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:172182444-172183262	GM12878	blood:	n/a	n/a
20	ZNF143	chr2:172182882-172182977	GM12878	blood:	n/a	n/a
21	BATF	chr2:172182747-172183058	GM12878	blood:	n/a	n/a
22	STAT3	chr2:172182734-172183165	GM12878	blood:	n/a	n/a
23	MEF2A	chr2:172182489-172183098	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:172182690-172183094	GM12878	blood:	n/a	n/a
25	CREB1	chr2:172182684-172183191	GM12878	blood:	n/a	n/a
26	YY1	chr2:172182825-172183188	GM12878	blood:	n/a	n/a
27	EP300	chr2:172182769-172183122	GM12878	blood:	n/a	n/a
28	PML	chr2:172182477-172183435	GM12878	blood:	n/a	n/a
29	BCLAF1	chr2:172182422-172183177	GM12878	blood:	n/a	n/a
30	NFIC	chr2:172179384-172184108	GM12878	blood:	n/a	n/a
31	CREB1	chr2:172182655-172183288	GM12878	blood:	n/a	n/a
32	BCLAF1	chr2:172182674-172183123	GM12878	blood:	n/a	n/a
33	STAT5A	chr2:172182674-172183135	GM12878	blood:	n/a	n/a
34	MYC	chr2:172182817-172183305	H1-hESC	embryonic stem cell:	n/a	n/a
35	EBF1	chr2:172182752-172183079	GM12878	blood:	n/a	n/a
36	PAX5	chr2:172182802-172183025	GM12878	blood:	n/a	n/a
37	TBP	chr2:172182678-172183178	GM12878	blood:	n/a	n/a
38	BATF	chr2:172182661-172183089	GM12878	blood:	n/a	n/a
39	IRF4	chr2:172182677-172183133	GM12878	blood:	n/a	n/a
40	ATF2	chr2:172182405-172183247	GM12878	blood:	n/a	n/a
41	PML	chr2:172182784-172183127	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
METTL8	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10454741	0.86[AMR][1000 genomes]
rs11674632	0.84[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11677795	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11679835	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs11687454	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694321	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11893310	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11902733	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12105780	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12989392	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12989938	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12995219	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13000846	0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13002817	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002867	0.86[AMR][1000 genomes]
rs13003130	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13005615	0.80[EUR][1000 genomes]
rs13023287	0.88[AMR][1000 genomes]
rs13023973	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13031794	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398989	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2111459	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2356707	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34096402	0.86[AMR][1000 genomes]
rs36140780	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4668380	0.88[CEU][hapmap]
rs67077741	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6722670	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7592018	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11691073	METTL8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172169800-172183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:172171400-172190800	Weak transcription	Esophagus	oesophagus
5	chr2:172171800-172211600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:172172600-172190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:172172800-172190600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:172173600-172186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172175400-172183000	Weak transcription	Fetal Lung	lung
11	chr2:172175400-172187600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:172175600-172188000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:172175800-172183600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:172176000-172183400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:172176000-172184400	Weak transcription	NHDF-Ad	bronchial
16	chr2:172176000-172187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:172176200-172183200	Weak transcription	Fetal Stomach	stomach
18	chr2:172176200-172183600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:172176200-172183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:172176200-172198600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:172176400-172183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:172176400-172183400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172177000-172183400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:172177200-172183200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:172177400-172183000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:172177400-172183600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:172177600-172184400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:172177800-172183400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172178000-172183600	Weak transcription	Fetal Brain Male	brain
30	chr2:172178000-172190600	Weak transcription	Left Ventricle	heart
31	chr2:172178400-172183800	Weak transcription	Fetal Kidney	kidney
32	chr2:172180000-172183600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:172180000-172195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:172180200-172185000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:172180400-172184200	Enhancers	Primary T cells from cord blood	blood
36	chr2:172180400-172184800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:172180600-172190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:172180600-172203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:172180800-172193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:172180800-172198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:172181000-172183400	Weak transcription	Fetal Thymus	thymus
42	chr2:172181000-172185000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:172181000-172188000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:172181000-172203800	Weak transcription	HMEC	breast
45	chr2:172181000-172221600	Weak transcription	K562	blood
46	chr2:172181200-172198000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:172181200-172204200	Weak transcription	NHEK	skin
48	chr2:172181400-172184400	Weak transcription	HepG2	liver
49	chr2:172181400-172185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:172181800-172184800	Enhancers	Primary T helper cells PMA-I stimulated	--

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