Variant report

Variant	rs571962496
Chromosome Location	chr11:57092778-57092779
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	MAX	chr11:57092448-57093375	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr11:57092495-57092935	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPD	chr11:57092320-57092853	HepG2	liver:	n/a	n/a
4	MAX	chr11:57091997-57093326	K562	blood:	n/a	chr11:57092097-57092106
5	E2F4	chr11:57092375-57093303	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr11:57092470-57092832	GM12878	blood:	n/a	n/a
7	TBP	chr11:57092417-57093407	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr11:57092472-57093327	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:57092369-57093469	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr11:57092528-57093285	IMR90	lung:	n/a	n/a
11	FOXA2	chr11:57092262-57092896	A549	lung:	n/a	n/a
12	HCFC1	chr11:57092287-57093263	K562	blood:	n/a	n/a
13	PAX5	chr11:57092427-57093035	GM12878	blood:	n/a	n/a
14	STAT3	chr11:57092577-57093000	MCF10A-Er-Src	breast:	n/a	chr11:57092972-57092992 chr11:57092978-57092986 chr11:57092944-57092952
15	EP300	chr11:57092451-57093350	K562	blood:	n/a	chr11:57092774-57092790
16	REST	chr11:57092409-57093184	HL-60	blood:	n/a	chr11:57092715-57092728
17	MAZ	chr11:57092400-57092896	HepG2	liver:	n/a	n/a
18	TBL1XR1	chr11:57092485-57093369	K562	blood:	n/a	n/a
19	STAT3	chr11:57092488-57093509	MCF10A-Er-Src	breast:	n/a	chr11:57092972-57092992 chr11:57092978-57092986 chr11:57092944-57092952
20	MAZ	chr11:57091646-57093233	Hela-S3	cervix:	n/a	chr11:57092097-57092106 chr11:57091829-57091839
21	SP4	chr11:57092410-57093262	H1-hESC	embryonic stem cell:	n/a	chr11:57092462-57092478
22	NFIC	chr11:57092404-57093483	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:57092020-57093444	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr11:57092276-57093933	PANC-1	pancreas:	n/a	n/a
25	SIN3AK20	chr11:57092384-57092859	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr11:57092427-57093405	GM12878	blood:	n/a	n/a
27	TEAD4	chr11:57092450-57093014	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:57092319-57093655	U87	brain:	n/a	n/a
29	BRCA1	chr11:57092496-57093119	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:57092269-57093515	Hela-S3	cervix:	n/a	n/a
31	RELA	chr11:57092496-57093366	GM19193	blood:	n/a	n/a
32	POLR2A	chr11:57092375-57093470	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:57092277-57093613	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:57092272-57093830	SK-N-SH	brain:	n/a	n/a
35	JUND	chr11:57092258-57092961	A549	lung:	n/a	n/a
36	TAF1	chr11:57092260-57092917	HepG2	liver:	n/a	n/a
37	MXI1	chr11:57088908-57093652	IMR90	lung:	n/a	chr11:57091416-57091431 chr11:57090118-57090133 chr11:57090120-57090135
38	BCL3	chr11:57092402-57093240	A549	lung:	n/a	chr11:57092715-57092724
39	POLR2A	chr11:57092292-57093593	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr11:57092405-57093682	K562	blood:	n/a	n/a
41	TAF7	chr11:57092447-57093014	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr11:57092345-57092986	GM12878	blood:	n/a	n/a
43	MXI1	chr11:57092486-57093378	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:57091991-57093302	A549	lung:	n/a	chr11:57092097-57092106
45	POLR2A	chr11:57092313-57093679	U87	brain:	n/a	n/a
46	SMARCB1	chr11:57091464-57093354	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:57091891-57093482	K562	blood:	n/a	n/a
48	POLR2A	chr11:57092427-57093304	GM12891	blood:	n/a	n/a
49	POLR2A	chr11:57091939-57093572	HepG2	liver:	n/a	n/a
50	BHLHE40	chr11:57092065-57092866	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57091420..57094384-chr11:57190255..57192267,2	K562	blood:
2	chr11:57091726..57094053-chr11:57435298..57437706,2	K562	blood:
3	chr11:57092537..57094239-chr11:57192344..57194712,2	K562	blood:
4	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:
5	chr11:57092687..57093324-chr7:135242342..135243244,2	NB4	blood:

Variant related genes	Relation type
ENSG00000254662	TF binding region
TNKS1BP1	TF binding region
ENSG00000254979	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000155561	Chromatin interaction
ENSG00000255301	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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3408359	chr11:57090901-57093749	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3369727	chr11:57091026-57093624	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3403312	chr11:57091576-57093024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57089200-57093600	Active TSS	Aorta	Aorta
2	chr11:57089600-57093400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:57090000-57092800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr11:57090000-57093000	Active TSS	Right Ventricle	heart
5	chr11:57090800-57093200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:57091000-57092800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:57091000-57092800	Active TSS	Colonic Mucosa	Colon
8	chr11:57091000-57092800	Active TSS	Rectal Smooth Muscle	rectum
9	chr11:57091000-57093000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:57091000-57093000	Active TSS	Fetal Kidney	kidney
11	chr11:57091000-57093000	Active TSS	Placenta Amnion	Placenta Amnion
12	chr11:57091000-57093200	Active TSS	Gastric	stomach
13	chr11:57091000-57093200	Active TSS	Small Intestine	intestine
14	chr11:57091200-57092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:57091200-57092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:57091200-57092800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:57091200-57092800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:57091200-57092800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:57091200-57092800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:57091200-57092800	Active TSS	HSMM	muscle
21	chr11:57091200-57092800	Active TSS	NHDF-Ad	bronchial
22	chr11:57091200-57092800	Active TSS	NHEK	skin
23	chr11:57091200-57093000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:57091200-57093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:57091200-57093000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:57091200-57093000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:57091200-57093000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:57091200-57093000	Active TSS	Esophagus	oesophagus
29	chr11:57091200-57093000	Active TSS	Left Ventricle	heart
30	chr11:57091200-57093000	Active TSS	Lung	lung
31	chr11:57091200-57093000	Active TSS	HSMMtube	muscle
32	chr11:57091200-57093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:57091200-57093200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:57091200-57093200	Active TSS	Ovary	ovary
35	chr11:57091200-57093200	Active TSS	Psoas Muscle	Psoas
36	chr11:57091200-57093400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:57091400-57092800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:57091400-57092800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr11:57091400-57092800	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:57091400-57092800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:57091400-57092800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:57091400-57092800	Active TSS	A549	lung
43	chr11:57091400-57093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:57091400-57093000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:57091400-57093000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:57091400-57093000	Active TSS	Primary T cells from cord blood	blood
47	chr11:57091400-57093000	Active TSS	Brain Angular Gyrus	brain
48	chr11:57091400-57093200	Active TSS	Fetal Brain Female	brain
49	chr11:57091600-57092800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:57091600-57092800	Active TSS	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links