Variant report

Variant	rs537859134
Chromosome Location	chr11:45921500-45921501
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	TBP	chr11:45921324-45921684	K562	blood:	n/a	n/a
2	MAX	chr11:45920935-45921715	K562	blood:	n/a	chr11:45921356-45921365
3	JUND	chr11:45920950-45921752	H1-hESC	embryonic stem cell:	n/a	n/a
4	SRF	chr11:45921205-45921712	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3AK20	chr11:45921332-45921629	SK-N-SH	brain:	n/a	n/a
6	MXI1	chr11:45920314-45921824	SK-N-SH	brain:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
7	REST	chr11:45920690-45921645	HepG2	liver:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
8	MAX	chr11:45921240-45921674	A549	lung:	n/a	chr11:45921356-45921365
9	TEAD4	chr11:45921362-45921633	K562	blood:	n/a	n/a
10	MAX	chr11:45921439-45921602	HepG2	liver:	n/a	n/a
11	SP1	chr11:45921100-45921778	A549	lung:	n/a	chr11:45921189-45921203 chr11:45921188-45921200 chr11:45921189-45921199 chr11:45921189-45921198 chr11:45921299-45921313 chr11:45921188-45921200 chr11:45921190-45921199
12	CTCF	chr11:45921415-45921615	K562	blood:	n/a	chr11:45921559-45921572
13	CREB1	chr11:45920896-45921786	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr11:45921322-45921627	A549	lung:	n/a	chr11:45921401-45921414
15	ZNF143	chr11:45921388-45921551	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr11:45921345-45921599	K562	blood:	n/a	n/a
17	MAZ	chr11:45920310-45921806	IMR90	lung:	n/a	chr11:45921356-45921365
18	USF1	chr11:45921289-45921757	SK-N-SH_RA	brain:	n/a	n/a
19	SIX5	chr11:45921299-45921636	A549	lung:	n/a	n/a
20	REST	chr11:45920538-45922058	U87	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
21	ZBTB7A	chr11:45921037-45921622	K562	blood:	n/a	chr11:45921340-45921351
22	FOXM1	chr11:45921301-45921646	GM12878	blood:	n/a	n/a
23	MYC	chr11:45920922-45921628	K562	blood:	n/a	chr11:45921356-45921365
24	MXI1	chr11:45920877-45921603	GM12878	blood:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
25	ZNF143	chr11:45920861-45921568	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr11:45920533-45921627	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
27	REST	chr11:45920629-45921752	MCF-7	breast:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
28	MXI1	chr11:45920905-45921648	HepG2	liver:	n/a	chr11:45921350-45921365 chr11:45921418-45921433
29	REST	chr11:45920694-45921771	SK-N-SH	brain:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
30	JUND	chr11:45921191-45921717	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr11:45920483-45921573	PANC-1	pancreas:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
32	MAZ	chr11:45920894-45921770	K562	blood:	n/a	chr11:45921356-45921365
33	RAD21	chr11:45921362-45921730	SK-N-SH_RA	brain:	n/a	n/a
34	ZC3H11A	chr11:45921236-45921589	K562	blood:	n/a	n/a
35	UBTF	chr11:45921365-45921695	K562	blood:	n/a	n/a
36	REST	chr11:45920763-45921633	K562	blood:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142
37	CHD1	chr11:45920829-45921818	IMR90	lung:	n/a	chr11:45921183-45921193
38	ZNF143	chr11:45921473-45921552	K562	blood:	n/a	n/a
39	ATF2	chr11:45921305-45921598	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr11:45920808-45921654	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr11:45921282-45921554	HepG2	liver:	n/a	n/a
42	EP300	chr11:45921311-45921741	H1-hESC	embryonic stem cell:	n/a	chr11:45921557-45921566
43	BHLHE40	chr11:45921011-45921713	K562	blood:	n/a	n/a
44	FOXA1	chr11:45921306-45921648	T-47D	breast:	n/a	n/a
45	ZNF384	chr11:45921335-45921628	K562	blood:	n/a	n/a
46	EGR1	chr11:45921437-45921753	K562	blood:	n/a	chr11:45921502-45921512
47	ATF3	chr11:45921125-45921680	K562	blood:	n/a	chr11:45921401-45921414
48	TCF12	chr11:45921212-45921643	A549	lung:	n/a	n/a
49	JUN	chr11:45921001-45921590	H1-hESC	embryonic stem cell:	n/a	chr11:45921399-45921412
50	REST	chr11:45920646-45921632	H1-hESC	embryonic stem cell:	n/a	chr11:45920821-45920839 chr11:45921444-45921457 chr11:45921129-45921142

No.	Distal block	Cell Line	Cell type
1	chr11:45868921..45870450-chr11:45919310..45922192,2	K562	blood:
2	chr11:45897697..45900039-chr11:45919922..45922515,2	K562	blood:
3	chr11:45898608..45900937-chr11:45921279..45922958,2	MCF-7	breast:
4	chr1:198127987..198130106-chr11:45920994..45922551,2	MCF-7	breast:
5	chr11:45897449..45899197-chr11:45919922..45922462,2	K562	blood:
6	chr11:45920062..45922983-chr11:45935210..45941830,10	K562	blood:
7	chr11:45920093..45922965-chr11:46143378..46145105,2	K562	blood:
8	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3344990	chr11:45920601-45923149	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
2	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:45920800-45921600	Enhancers	Fetal Heart	heart
4	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
5	chr11:45920800-45921600	Flanking Bivalent TSS/Enh	Thymus	Thymus
6	chr11:45920800-45922800	Enhancers	Liver	Liver
7	chr11:45921000-45921600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:45921000-45921600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:45921000-45921600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:45921000-45921600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:45921000-45922000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:45921000-45922000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:45921000-45922000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:45921000-45922000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:45921000-45922000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:45921000-45922000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:45921000-45922000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:45921000-45922000	Active TSS	Stomach Smooth Muscle	stomach
19	chr11:45921000-45922200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr11:45921000-45922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:45921000-45922200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:45921000-45922200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:45921000-45922200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:45921000-45922200	Active TSS	Aorta	Aorta
25	chr11:45921000-45922400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:45921000-45922400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:45921000-45922600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:45921000-45922600	Active TSS	Fetal Kidney	kidney
29	chr11:45921000-45922600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr11:45921000-45923000	Active TSS	Brain Angular Gyrus	brain
31	chr11:45921000-45923000	Active TSS	Brain Substantia Nigra	brain
32	chr11:45921000-45923200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:45921200-45921600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:45921200-45921600	Active TSS	Primary hematopoietic stem cells	blood
35	chr11:45921200-45921600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:45921200-45921600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:45921200-45921600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:45921200-45921800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:45921200-45921800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:45921200-45921800	Active TSS	Colonic Mucosa	Colon
41	chr11:45921200-45922000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:45921200-45922000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:45921200-45922000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:45921200-45922000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:45921200-45922000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr11:45921200-45922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:45921200-45922000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:45921200-45922000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:45921200-45922000	Active TSS	Brain Germinal Matrix	brain
50	chr11:45921200-45922000	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links