Variant report

Variant	rs17853729
Chromosome Location	chr11:45944542-45944543
allele	A/G
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	YY1	chr11:45944102-45944687	K562	blood:	n/a	chr11:45944325-45944334
2	YY1	chr11:45944224-45944562	ECC-1	luminal epithelium:	n/a	chr11:45944325-45944334
3	MAX	chr11:45943484-45945245	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
4	SIN3A	chr11:45942868-45945276	H1-hESC	embryonic stem cell:	n/a	chr11:45944228-45944241 chr11:45944150-45944161 chr11:45943644-45943653 chr11:45943637-45943650
5	MXI1	chr11:45944188-45945060	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr11:45943407-45944542	HepG2	liver:	n/a	chr11:45943840-45943850
7	YY1	chr11:45944246-45944563	GM12878	blood:	n/a	chr11:45944325-45944334
8	USF2	chr11:45944311-45944661	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr11:45943436-45944743	HepG2	liver:	n/a	chr11:45944325-45944334 chr11:45943971-45943985 chr11:45943950-45943961
10	MYC	chr11:45943408-45944688	H1-hESC	embryonic stem cell:	n/a	chr11:45943840-45943850
11	YY1	chr11:45944003-45944608	H1-hESC	embryonic stem cell:	n/a	chr11:45944325-45944334
12	MAX	chr11:45942936-45944627	ECC-1	luminal epithelium:	n/a	chr11:45943840-45943850
13	MAX	chr11:45944306-45944674	K562	blood:	n/a	n/a
14	HMGN3	chr11:45943644-45945084	K562	blood:	n/a	n/a
15	POLR2A	chr11:45943902-45944587	SK-N-MC	brain:	n/a	n/a
16	MYC	chr11:45943738-45945102	K562	blood:	n/a	chr11:45943840-45943850
17	TCF7L2	chr11:45943454-45944846	HCT-116	colon:	n/a	n/a
18	MAX	chr11:45944304-45945245	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr11:45944055-45944599	HCT-116	colon:	n/a	chr11:45944325-45944334
20	YY1	chr11:45944241-45944664	H1-hESC	embryonic stem cell:	n/a	chr11:45944325-45944334
21	MAX	chr11:45944202-45944602	K562	blood:	n/a	n/a
22	POLR2A	chr11:45944094-45944712	K562	blood:	n/a	n/a
23	POLR2A	chr11:45942718-45945382	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3AK20	chr11:45943973-45944567	K562	blood:	n/a	n/a
25	EGR1	chr11:45943512-45944559	HCT-116	colon:	n/a	chr11:45944324-45944334 chr11:45943944-45943957 chr11:45944183-45944196
26	MAX	chr11:45943461-45944820	MCF-7	breast:	n/a	chr11:45943840-45943850
27	RCOR1	chr11:45943749-45944980	K562	blood:	n/a	n/a
28	ZBTB7A	chr11:45942756-45944675	ECC-1	luminal epithelium:	n/a	chr11:45944107-45944114 chr11:45944141-45944148
29	YY1	chr11:45943917-45944632	K562	blood:	n/a	chr11:45944325-45944334 chr11:45943971-45943985 chr11:45943950-45943961
30	CTCF	chr11:45944400-45944550	GM12874	blood:	n/a	n/a
31	YY1	chr11:45944225-45944574	GM12892	blood:	n/a	chr11:45944325-45944334
32	MAX	chr11:45944505-45945327	H1-hESC	embryonic stem cell:	n/a	n/a
33	TCF12	chr11:45942880-45944600	ECC-1	luminal epithelium:	n/a	chr11:45944386-45944396
34	CTCF	chr11:45944250-45944550	K562	blood:	n/a	n/a
35	MAX	chr11:45944261-45944679	HepG2	liver:	n/a	n/a
36	MYC	chr11:45943745-45945197	K562	blood:	n/a	chr11:45943840-45943850
37	ZBTB7A	chr11:45942892-45944794	ECC-1	luminal epithelium:	n/a	chr11:45944107-45944114 chr11:45944141-45944148
38	MAX	chr11:45943385-45945348	HCT-116	colon:	n/a	chr11:45943840-45943850
39	CCNT2	chr11:45943740-45944981	K562	blood:	n/a	chr11:45944138-45944147 chr11:45943905-45943914 chr11:45944108-45944117 chr11:45944015-45944024
40	E2F6	chr11:45943654-45945273	K562	blood:	n/a	chr11:45944234-45944244 chr11:45943947-45943957 chr11:45944009-45944018 chr11:45944112-45944122 chr11:45944325-45944334
41	YY1	chr11:45944123-45944542	ECC-1	luminal epithelium:	n/a	chr11:45944325-45944334
42	SIN3AK20	chr11:45943556-45944639	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:45944193-45944635	K562	blood:	n/a	n/a
44	YY1	chr11:45944255-45944556	HepG2	liver:	n/a	chr11:45944325-45944334
45	POLR2A	chr11:45944045-45944588	HCT-116	colon:	n/a	n/a
46	CHD1	chr11:45944355-45944552	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr11:45943583-45945207	K562	blood:	n/a	chr11:45943840-45943850
48	MAZ	chr11:45943689-45945089	K562	blood:	n/a	chr11:45943840-45943850
49	ELF1	chr11:45943965-45944580	K562	blood:	n/a	chr11:45943978-45943990
50	MAX	chr11:45943355-45945037	HepG2	liver:	n/a	chr11:45943840-45943850

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
ENSG00000121671	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58844328	1.00[EUR][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:99 , 50 per page) page: 1 2

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	chr11:45943400-45944800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:45943400-45945000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:45943400-45945000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:45943400-45945000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr11:45943400-45945000	Enhancers	Fetal Heart	heart
10	chr11:45943400-45945200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:45943400-45945200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:45943400-45945200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:45943400-45945200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
14	chr11:45943400-45945200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:45943400-45945200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr11:45943400-45945400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:45943600-45944600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:45943600-45944600	Active TSS	Pancreas	Pancrea
19	chr11:45943600-45944800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr11:45943600-45944800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr11:45943600-45944800	Active TSS	Esophagus	oesophagus
22	chr11:45943600-45944800	Active TSS	Lung	lung
23	chr11:45943600-45944800	Active TSS	K562	blood
24	chr11:45943600-45945000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:45943600-45945000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr11:45943600-45945000	Flanking Bivalent TSS/Enh	Thymus	Thymus
27	chr11:45943600-45945000	Active TSS	HepG2	liver
28	chr11:45943600-45945200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:45943600-45945200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr11:45943600-45945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:45943600-45945200	Flanking Active TSS	Right Ventricle	heart
32	chr11:45943600-45945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:45943600-45945600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:45943800-45944600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:45943800-45944600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr11:45943800-45944600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:45943800-45944600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr11:45943800-45944800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:45943800-45944800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:45943800-45944800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:45943800-45944800	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr11:45943800-45944800	Transcr. at gene 5' and 3'	Right Atrium	heart
43	chr11:45943800-45944800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:45943800-45945000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:45943800-45945000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr11:45943800-45945000	Active TSS	Gastric	stomach
47	chr11:45943800-45945200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:45943800-45945200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:45943800-45945600	Active TSS	NHEK	skin
50	chr11:45944000-45944600	Active TSS	Brain Inferior Temporal Lobe	brain

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