Variant report

Variant	rs546109949
Chromosome Location	chr11:17740290-17740291
allele	A/C
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	SUZ12	chr11:17740219-17740823	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	BACH1	chr11:17740034-17740383	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr11:17739983-17740369	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr11:17740067-17740362	H1-hESC	embryonic stem cell:	n/a	chr11:17740194-17740204 chr11:17740195-17740204

Variant related genes	Relation type
MYOD1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17736800-17740400	Weak transcription	Psoas Muscle	Psoas
2	chr11:17736800-17740400	Weak transcription	HSMM	muscle
3	chr11:17736800-17740600	Weak transcription	HSMMtube	muscle
4	chr11:17736800-17741000	Weak transcription	Right Atrium	heart
5	chr11:17739200-17740400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:17739800-17740600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:17740000-17740400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr11:17740000-17740800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr11:17740200-17740400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
10	chr11:17740200-17740400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr11:17740200-17740600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:17740200-17740600	Bivalent Enhancer	Placenta	Placenta
13	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr11:17740200-17740800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:17740200-17740800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr11:17740200-17741400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr11:17740200-17742000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr11:17740200-17742600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:17740200-17743000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:17740200-17743200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr11:17740200-17743200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:17740200-17743600	Bivalent Enhancer	Fetal Heart	heart
26	chr11:17740200-17743800	Bivalent Enhancer	Liver	Liver

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