Variant report

Variant	rs554293723
Chromosome Location	chr11:65600700-65600701
allele	C/T
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	SIN3A	chr11:65600553-65601657	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr11:65600516-65601807	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
3	MXI1	chr11:65600246-65602155	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:65600675-65601733	GM12892	blood:	n/a	n/a
5	MAX	chr11:65600609-65601721	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
6	POLR2A	chr11:65600483-65602602	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:65600602-65601737	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:65600595-65601820	SK-N-MC	brain:	n/a	n/a
9	MXI1	chr11:65600344-65602533	SK-N-SH	brain:	n/a	n/a
10	MYC	chr11:65600651-65601587	H1-hESC	embryonic stem cell:	n/a	chr11:65601101-65601111 chr11:65601101-65601110 chr11:65601101-65601110 chr11:65601102-65601109
11	E2F6	chr11:65600597-65601696	H1-hESC	embryonic stem cell:	n/a	chr11:65601066-65601081 chr11:65601068-65601076 chr11:65601065-65601076 chr11:65601087-65601096 chr11:65601069-65601076 chr11:65601068-65601077 chr11:65601065-65601076 chr11:65601065-65601076 chr11:65601066-65601077 chr11:65601067-65601077
12	POLR2A	chr11:65600460-65601642	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr11:65600638-65601738	GM12878	blood:	n/a	chr11:65601505-65601517
14	MTA3	chr11:65600398-65602155	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65599027..65600852-chr11:65601394..65604291,2	K562	blood:
2	chr11:65599682..65601863-chr11:65818746..65820444,2	K562	blood:

Variant related genes	Relation type
SNX32	TF binding region
CFL1	TF binding region
ENSG00000172803	Chromatin interaction
ENSG00000087365	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	esv3328198	chr11:65600476-65603674	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3364341	chr11:65600476-65603674	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65600200-65600800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:65600200-65600800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr11:65600200-65600800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:65600200-65600800	Bivalent Enhancer	NHDF-Ad	bronchial
5	chr11:65600200-65601200	Flanking Active TSS	Dnd41	blood
6	chr11:65600200-65601600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:65600200-65601600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:65600200-65601800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr11:65600200-65602600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:65600400-65600800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr11:65600400-65600800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr11:65600400-65600800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:65600400-65600800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:65600400-65600800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:65600400-65600800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:65600400-65600800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr11:65600400-65600800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr11:65600400-65600800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:65600400-65600800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr11:65600400-65600800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:65600400-65600800	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr11:65600400-65600800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr11:65600400-65600800	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr11:65600400-65600800	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr11:65600400-65600800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
30	chr11:65600400-65600800	Enhancers	Lung	lung
31	chr11:65600400-65600800	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
33	chr11:65600400-65600800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:65600400-65600800	Flanking Bivalent TSS/Enh	NH-A	brain
35	chr11:65600400-65601000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr11:65600400-65601000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr11:65600400-65601000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:65600400-65601000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:65600400-65601000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr11:65600400-65601000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:65600400-65601000	Flanking Active TSS	Fetal Stomach	stomach
42	chr11:65600400-65601200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:65600400-65601200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:65600400-65601600	Active TSS	Brain Cingulate Gyrus	brain
45	chr11:65600400-65601600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:65600400-65601600	Active TSS	Brain Substantia Nigra	brain
47	chr11:65600400-65601600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:65600400-65601600	Active TSS	Fetal Kidney	kidney
49	chr11:65600400-65601600	Active TSS	Fetal Lung	lung
50	chr11:65600400-65601800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links