Variant report

Variant	rs2734548
Chromosome Location	chr11:17741011-17741012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	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	MAX	chr11:17740708-17741077	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr11:17740520-17741093	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:17740880-17741030	GM12869	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17740967-17741017	HCF	heart:	n/a
2	chr11:17740977-17741027	HepG2	liver:	n/a
3	chr11:17740977-17741027	T-47D	breast:	n/a
4	chr11:17740967-17741017	U87	brain:	n/a
5	chr11:17740977-17741027	CMK	blood:	n/a
6	chr11:17740967-17741017	MCF-7	breast:	n/a
7	chr11:17740967-17741017	HMEC	breast:	n/a
8	chr11:17740977-17741027	K562	blood:	n/a
9	chr11:17740967-17741017	AoSMC	blood vessel:	n/a
10	chr11:17740967-17741017	HNPCEpiC	eye:	n/a
11	chr11:17740977-17741027	HCF	heart:	n/a
12	chr11:17740977-17741027	SK-N-MC	brain:	n/a
13	chr11:17740967-17741017	H1-hESC	embryonic stem cell:	embryo
14	chr11:17740967-17741017	LNCaP	prostate:	n/a
15	chr11:17740967-17741017	HUVEC	blood vessel:	n/a
16	chr11:17740967-17741017	K562	blood:	n/a
17	chr11:17740977-17741027	PFSK-1	brain:	n/a
18	chr11:17740977-17741027	NB4	blood:	n/a
19	chr11:17740977-17741027	PANC-1	pancreas:	n/a
20	chr11:17740967-17741017	CMK	blood:	n/a
21	chr11:17740977-17741027	BJ	skin:	n/a
22	chr11:17740967-17741017	BJ	skin:	n/a
23	chr11:17740967-17741017	PrEC	prostate:	n/a
24	chr11:17740977-17741027	U87	brain:	n/a
25	chr11:17740977-17741027	HIPEpiC	eye:	n/a
26	chr11:17740967-17741017	HCPEpiC	choroid plexus:	n/a
27	chr11:17740967-17741017	ProgFib	skin:	n/a
28	chr11:17740967-17741017	AG04449	skin:	fetal
29	chr11:17740967-17741017	Hepatocyte	liver:	n/a
30	chr11:17740967-17741017	HRCEpiC	kidney:	n/a
31	chr11:17740977-17741027	HNPCEpiC	eye:	n/a
32	chr11:17740977-17741027	Hela-S3	cervix:	n/a
33	chr11:17740977-17741027	AG04449	skin:	fetal
34	chr11:17740977-17741027	NT2-D1	testis:	n/a
35	chr11:17740967-17741017	SKMC	muscle:	n/a
36	chr11:17740977-17741027	GM19239	blood:	n/a
37	chr11:17740977-17741027	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:17740977-17741027	NH-A	brain:	n/a
39	chr11:17740977-17741027	Hepatocyte	liver:	n/a
40	chr11:17740967-17741017	HL-60	blood:	n/a
41	chr11:17740967-17741017	HCT-116	colon:	n/a
42	chr11:17740967-17741017	HRE	kidney:	n/a
43	chr11:17740967-17741017	NT2-D1	testis:	n/a
44	chr11:17740967-17741017	GM06990	blood:	n/a
45	chr11:17740977-17741027	SK-N-SH	brain:	n/a
46	chr11:17740977-17741027	HCT-116	colon:	n/a
47	chr11:17740967-17741017	GM12892	blood:	n/a
48	chr11:17740977-17741027	H1-hESC	embryonic stem cell:	embryo
49	chr11:17740977-17741027	NHBE	bronchial:	n/a
50	chr11:17740977-17741027	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
MYOD1	TF binding region
MYOD1	CpG island

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17740200-17741400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
2	chr11:17740200-17742000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr11:17740200-17742600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:17740200-17743000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:17740200-17743200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr11:17740200-17743200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:17740200-17743600	Bivalent Enhancer	Fetal Heart	heart
8	chr11:17740200-17743800	Bivalent Enhancer	Liver	Liver
9	chr11:17740400-17741400	Bivalent/Poised TSS	Right Ventricle	heart
10	chr11:17740400-17743200	Active TSS	Psoas Muscle	Psoas
11	chr11:17740400-17743400	Active TSS	HSMM	muscle
12	chr11:17740600-17741200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:17740600-17741600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:17740600-17742000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:17740600-17742000	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr11:17740600-17743600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:17740600-17743800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:17740600-17743800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr11:17740600-17743800	Enhancers	Pancreas	Pancrea
20	chr11:17740600-17744400	Active TSS	HSMMtube	muscle
21	chr11:17740800-17741200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr11:17740800-17741200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:17740800-17741200	Bivalent Enhancer	Placenta	Placenta
24	chr11:17740800-17741200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:17740800-17741400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:17740800-17741400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:17740800-17741800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:17740800-17742000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
29	chr11:17740800-17743000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr11:17740800-17743200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:17740800-17743200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:17740800-17743600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:17741000-17741800	Enhancers	Right Atrium	heart
34	chr11:17741000-17742000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:17741000-17742200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:17741000-17742400	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr11:17741000-17742600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:17741000-17743600	Bivalent Enhancer	Fetal Stomach	stomach

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