Variant report

Variant	rs56148819
Chromosome Location	chr11:45944290-45944291
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	EP300	chr11:45943449-45944375	H1-hESC	embryonic stem cell:	n/a	chr11:45944326-45944342 chr11:45944234-45944250 chr11:45943936-45943952
2	TCF12	chr11:45943552-45944305	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr11:45944102-45944687	K562	blood:	n/a	chr11:45944325-45944334
4	SP1	chr11:45942999-45944417	H1-hESC	embryonic stem cell:	n/a	chr11:45944188-45944197 chr11:45943904-45943918 chr11:45944137-45944151 chr11:45944108-45944118 chr11:45944137-45944146 chr11:45943786-45943798 chr11:45944109-45944118 chr11:45944107-45944119 chr11:45944136-45944148 chr11:45943786-45943798 chr11:45944189-45944198 chr11:45943905-45943914 chr11:45944109-45944118 chr11:45943841-45943855 chr11:45944187-45944199 chr11:45944108-45944117 chr11:45944107-45944119 chr11:45944137-45944147 chr11:45943903-45943915 chr11:45943903-45943915 chr11:45944137-45944146 chr11:45944138-45944147 chr11:45943904-45943913 chr11:45944187-45944199 chr11:45944104-45944118 chr11:45944136-45944148 chr11:45943787-45943796 chr11:45943844-45943858 chr11:45944108-45944118 chr11:45944328-45944341
5	YY1	chr11:45944224-45944562	ECC-1	luminal epithelium:	n/a	chr11:45944325-45944334
6	POLR2A	chr11:45944001-45944450	HCT-116	colon:	n/a	n/a
7	MAX	chr11:45943484-45945245	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
8	SIN3A	chr11:45942868-45945276	H1-hESC	embryonic stem cell:	n/a	chr11:45944228-45944241 chr11:45944150-45944161 chr11:45943644-45943653 chr11:45943637-45943650
9	MXI1	chr11:45944188-45945060	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr11:45943407-45944542	HepG2	liver:	n/a	chr11:45943840-45943850
11	YY1	chr11:45944246-45944563	GM12878	blood:	n/a	chr11:45944325-45944334
12	POLR2A	chr11:45944127-45944441	MCF10A-Er-Src	breast:	n/a	n/a
13	EGR1	chr11:45943798-45944409	MCF-7	breast:	n/a	chr11:45944324-45944334 chr11:45943944-45943957 chr11:45944183-45944196
14	YY1	chr11:45943436-45944743	HepG2	liver:	n/a	chr11:45944325-45944334 chr11:45943971-45943985 chr11:45943950-45943961
15	ETS1	chr11:45943989-45944332	K562	blood:	n/a	n/a
16	POLR2A	chr11:45943684-45944470	HCT-116	colon:	n/a	n/a
17	MYC	chr11:45943408-45944688	H1-hESC	embryonic stem cell:	n/a	chr11:45943840-45943850
18	SP4	chr11:45943554-45944375	H1-hESC	embryonic stem cell:	n/a	chr11:45944105-45944121 chr11:45944183-45944199 chr11:45944134-45944150 chr11:45943901-45943917 chr11:45944103-45944119
19	UBTF	chr11:45944151-45944470	K562	blood:	n/a	n/a
20	POLR2A	chr11:45943565-45944489	HepG2	liver:	n/a	n/a
21	YY1	chr11:45944003-45944608	H1-hESC	embryonic stem cell:	n/a	chr11:45944325-45944334
22	IRF1	chr11:45943858-45944373	K562	blood:	n/a	chr11:45943901-45943915 chr11:45944187-45944201 chr11:45944134-45944148 chr11:45944107-45944121
23	MAX	chr11:45942936-45944627	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
24	EGR1	chr11:45943803-45944292	K562	blood:	n/a	chr11:45943944-45943957 chr11:45944183-45944196
25	POLR2A	chr11:45943113-45944443	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr11:45944280-45944430	GM12871	blood:	n/a	n/a
27	POLR2A	chr11:45944212-45944300	A549	lung:	n/a	n/a
28	HMGN3	chr11:45943644-45945084	K562	blood:	n/a	n/a
29	EGR1	chr11:45943603-45944423	ECC-1	luminal epithelium:	n/a	chr11:45944324-45944334 chr11:45943944-45943957 chr11:45944183-45944196
30	POLR2A	chr11:45944193-45944343	MCF-7	breast:	n/a	n/a
31	POLR2A	chr11:45943902-45944587	SK-N-MC	brain:	n/a	n/a
32	MYC	chr11:45943738-45945102	K562	blood:	n/a	chr11:45943840-45943850
33	EP300	chr11:45942781-45944534	ECC-1	luminal epithelium:	n/a	chr11:45942994-45943001 chr11:45944326-45944342 chr11:45944234-45944250 chr11:45943936-45943952
34	TCF7L2	chr11:45943454-45944846	HCT-116	colon:	n/a	n/a
35	YY1	chr11:45944055-45944599	HCT-116	colon:	n/a	chr11:45944325-45944334
36	NR2F2	chr11:45943674-45944443	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:45943635-45944452	HepG2	liver:	n/a	n/a
38	YY1	chr11:45944241-45944664	H1-hESC	embryonic stem cell:	n/a	chr11:45944325-45944334
39	HEY1	chr11:45943607-45944431	HepG2	liver:	n/a	chr11:45944292-45944307 chr11:45944416-45944431
40	POLR2A	chr11:45943463-45944459	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr11:45944287-45944484	HCT-116	colon:	n/a	chr11:45944325-45944334
42	MAX	chr11:45944202-45944602	K562	blood:	n/a	n/a
43	POLR2A	chr11:45944261-45944355	MCF-7	breast:	n/a	n/a
44	TAF7	chr11:45944029-45944465	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:45944094-45944712	K562	blood:	n/a	n/a
46	POLR2A	chr11:45942718-45945382	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:45944147-45944443	MCF-7	breast:	n/a	n/a
48	HEY1	chr11:45944097-45944338	K562	blood:	n/a	chr11:45944292-45944307
49	HDAC2	chr11:45943516-45944414	MCF-7	breast:	n/a	n/a
50	HCFC1	chr11:45944254-45944454	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45867151..45870859-chr11:45942545..45946514,4	K562	blood:
2	chr11:45942684..45944705-chr11:46141351..46143147,2	K562	blood:

Variant related genes	Relation type
GYLTL1B	TF binding region
PEX16	TF binding region
ENSG00000135365	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10838529	0.84[ASN][1000 genomes]
rs11038709	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271845	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789023	0.80[ASN][1000 genomes]
rs4505038	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55884539	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	esv1798496	chr11:45925495-45948304	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3327833	chr11:45942401-45945249	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45941200-45953400	Weak transcription	Dnd41	blood
2	chr11:45943200-45945200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:45943200-45945400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:45943200-45945800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:45943400-45944400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:45943400-45944400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:45943400-45944800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:45943400-45945000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:45943400-45945000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:45943400-45945000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr11:45943400-45945000	Enhancers	Fetal Heart	heart
12	chr11:45943400-45945200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:45943400-45945200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:45943400-45945200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:45943400-45945200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
16	chr11:45943400-45945200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:45943400-45945200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr11:45943400-45945400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:45943600-45944400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:45943600-45944400	Flanking Active TSS	Liver	Liver
21	chr11:45943600-45944400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr11:45943600-45944400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:45943600-45944600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:45943600-45944600	Active TSS	Pancreas	Pancrea
25	chr11:45943600-45944800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
26	chr11:45943600-45944800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr11:45943600-45944800	Active TSS	Esophagus	oesophagus
28	chr11:45943600-45944800	Active TSS	Lung	lung
29	chr11:45943600-45944800	Active TSS	K562	blood
30	chr11:45943600-45945000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:45943600-45945000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr11:45943600-45945000	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr11:45943600-45945000	Active TSS	HepG2	liver
34	chr11:45943600-45945200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:45943600-45945200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr11:45943600-45945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:45943600-45945200	Flanking Active TSS	Right Ventricle	heart
38	chr11:45943600-45945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:45943600-45945600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr11:45943800-45944400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:45943800-45944400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:45943800-45944400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:45943800-45944400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:45943800-45944600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:45943800-45944600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr11:45943800-45944600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:45943800-45944600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr11:45943800-45944800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:45943800-45944800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:45943800-45944800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links