Variant report

Variant	rs3911833
Chromosome Location	chr11:17740778-17740779
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	E2F6	chr11:17740446-17741053	H1-hESC	embryonic stem cell:	n/a	chr11:17740805-17740812 chr11:17740805-17740812 chr11:17740805-17740812
2	SUZ12	chr11:17740219-17740823	H1-hESC	embryonic stem cell:	n/a	n/a
3	HDAC2	chr11:17740658-17740921	HepG2	liver:	n/a	n/a
4	E2F6	chr11:17740012-17742240	H1-hESC	embryonic stem cell:	n/a	chr11:17741305-17741320 chr11:17741140-17741150 chr11:17740369-17740380 chr11:17740805-17740812 chr11:17740805-17740812 chr11:17740805-17740812
5	MAX	chr11:17740708-17741077	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:17740520-17741093	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr11:17740578-17740831	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MYOD1	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10766416	0.84[EUR][1000 genomes]
rs10766420	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10766425	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832842	0.84[EUR][1000 genomes]
rs10832845	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832851	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832852	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024384	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603216	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603221	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336849	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609365	0.83[EUR][1000 genomes]
rs2878806	0.80[CEU][hapmap]
rs3858493	0.83[EUR][1000 genomes]
rs3858494	0.83[EUR][1000 genomes]
rs3858495	0.83[EUR][1000 genomes]
rs3858496	0.83[EUR][1000 genomes]
rs3858498	0.83[EUR][1000 genomes]
rs3858506	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3858508	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3890009	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901226	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928366	0.83[EUR][1000 genomes]
rs4081578	1.00[CHB][hapmap]
rs4083362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756912	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4757570	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap]
rs4757574	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap]
rs61880586	0.81[EUR][1000 genomes]
rs6416178	0.85[EUR][1000 genomes]
rs6486390	0.85[EUR][1000 genomes]
rs7101870	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7106809	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7107526	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109072	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs7128599	0.83[EUR][1000 genomes]
rs7478812	0.82[EUR][1000 genomes]
rs7930233	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937727	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3351059	chr11:17739776-17744374	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17736800-17741000	Weak transcription	Right Atrium	heart
2	chr11:17740000-17740800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
5	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
6	chr11:17740200-17740800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr11:17740200-17741400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr11:17740200-17742000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr11:17740200-17742600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:17740200-17743000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:17740200-17743200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr11:17740200-17743200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17740200-17743600	Bivalent Enhancer	Fetal Heart	heart
16	chr11:17740200-17743800	Bivalent Enhancer	Liver	Liver
17	chr11:17740400-17740800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:17740400-17740800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
19	chr11:17740400-17740800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:17740400-17740800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:17740400-17740800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr11:17740400-17741400	Bivalent/Poised TSS	Right Ventricle	heart
23	chr11:17740400-17743200	Active TSS	Psoas Muscle	Psoas
24	chr11:17740400-17743400	Active TSS	HSMM	muscle
25	chr11:17740600-17740800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:17740600-17740800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:17740600-17740800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr11:17740600-17740800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
29	chr11:17740600-17740800	Bivalent Enhancer	Brain Angular Gyrus	brain
30	chr11:17740600-17740800	Bivalent Enhancer	Fetal Lung	lung
31	chr11:17740600-17740800	Flanking Bivalent TSS/Enh	Placenta	Placenta
32	chr11:17740600-17740800	Bivalent Enhancer	Spleen	Spleen
33	chr11:17740600-17741200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr11:17740600-17741600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:17740600-17742000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:17740600-17742000	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr11:17740600-17743600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:17740600-17743800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:17740600-17743800	Bivalent Enhancer	Fetal Brain Male	brain
40	chr11:17740600-17743800	Enhancers	Pancreas	Pancrea
41	chr11:17740600-17744400	Active TSS	HSMMtube	muscle

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