Variant report

Variant	rs556397482
Chromosome Location	chr11:58668761-58668762
allele	G/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	CTCF	chr11:58668079-58668775	HCT-116	colon:	n/a	chr11:58668444-58668457 chr11:58668442-58668460 chr11:58668437-58668458
2	CTCF	chr11:58668735-58668815	K562	blood:	n/a	n/a
3	HA-E2F1	chr11:58668158-58668787	MCF-7	breast:	n/a	n/a
4	RAD21	chr11:58668064-58668826	HCT-116	colon:	n/a	chr11:58668440-58668459 chr11:58668444-58668458
5	CTCF	chr11:58668099-58668916	A549	lung:	n/a	chr11:58668444-58668457 chr11:58668442-58668460 chr11:58668437-58668458
6	RAD21	chr11:58668264-58668783	K562	blood:	n/a	chr11:58668440-58668459 chr11:58668444-58668458
7	CTCF	chr11:58668680-58668830	AoAF	blood vessel:	n/a	n/a
8	SP1	chr11:58668004-58668769	H1-hESC	embryonic stem cell:	n/a	chr11:58668210-58668220
9	CTCF	chr11:58668680-58668830	AG10803	skin:	n/a	n/a
10	CREB1	chr11:58668219-58668775	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:58668720-58668870	GM12871	blood:	n/a	n/a
12	CTCF	chr11:58668720-58668870	GM12878	blood:	n/a	n/a
13	MAFF	chr11:58668732-58668780	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58661995..58664743-chr11:58668611..58670936,2	K562	blood:
2	chr11:58667985..58668808-chr11:58825960..58826578,4	MCF-7	breast:
3	chr11:58668032..58668917-chr11:58825619..58826508,3	K562	blood:

Variant related genes	Relation type
GLYATL1	TF binding region
ENSG00000224130	TF binding region
ENSG00000255240	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1048605	chr11:58534660-58672438	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1824025	chr11:58626835-58669877	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1831269	chr11:58626835-58669877	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3502182	chr11:58668199-58731237	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3502181	chr11:58668236-58731215	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3478019	chr11:58668282-58731214	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3478030	chr11:58668282-58731214	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv3502183	chr11:58668353-58731177	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58651000-58671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:58659400-58671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:58665000-58668800	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:58665200-58671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:58667600-58668800	Active TSS	Fetal Brain Female	brain
6	chr11:58667800-58668800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:58667800-58668800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:58667800-58668800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:58667800-58669000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:58668000-58668800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:58668000-58668800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:58668000-58668800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:58668000-58668800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:58668000-58668800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:58668000-58668800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:58668000-58669000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:58668200-58668800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr11:58668200-58668800	Enhancers	Fetal Intestine Small	intestine
19	chr11:58668200-58668800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr11:58668200-58668800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr11:58668200-58669200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:58668400-58668800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:58668400-58668800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:58668400-58668800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:58668400-58668800	Enhancers	Liver	Liver
26	chr11:58668400-58668800	Enhancers	Fetal Brain Male	brain
27	chr11:58668400-58668800	Enhancers	Pancreas	Pancrea
28	chr11:58668400-58668800	Enhancers	A549	lung
29	chr11:58668400-58668800	Enhancers	NHEK	skin
30	chr11:58668400-58668800	Active TSS	Osteobl	bone
31	chr11:58668400-58669200	Enhancers	HMEC	breast
32	chr11:58668400-58669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:58668400-58670600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:58668400-58670600	Weak transcription	NHDF-Ad	bronchial
35	chr11:58668400-58670800	Weak transcription	NHLF	lung
36	chr11:58668400-58672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:58668400-58672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:58668400-58672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:58668400-58672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:58668600-58668800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr11:58668600-58668800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:58668600-58668800	Weak transcription	Brain Germinal Matrix	brain
43	chr11:58668600-58668800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr11:58668600-58668800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:58668600-58668800	Enhancers	GM12878-XiMat	blood
46	chr11:58668600-58668800	Flanking Active TSS	HepG2	liver
47	chr11:58668600-58668800	Flanking Active TSS	NH-A	brain
48	chr11:58668600-58669000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:58668600-58670200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:58668600-58670400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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