Variant report

Variant	rs4757418
Chromosome Location	chr11:16629331-16629332
allele	A/C
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	POLR2A	chr11:16625894-16629722	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:16629013-16629598	ProgFib	skin:	n/a	n/a
3	YY1	chr11:16629005-16629403	K562	blood:	n/a	chr11:16629057-16629068 chr11:16629122-16629133 chr11:16629065-16629074
4	CBX3	chr11:16629074-16629702	K562	blood:	n/a	n/a
5	YY1	chr11:16628996-16629535	ECC-1	luminal epithelium:	n/a	chr11:16629057-16629068 chr11:16629122-16629133 chr11:16629065-16629074
6	POLR2A	chr11:16625734-16629709	K562	blood:	n/a	n/a
7	UBTF	chr11:16625613-16629678	K562	blood:	n/a	n/a
8	ZBTB7A	chr11:16628292-16629637	ECC-1	luminal epithelium:	n/a	n/a
9	ZNF143	chr11:16629160-16629381	K562	blood:	n/a	n/a
10	HEY1	chr11:16629091-16629393	K562	blood:	n/a	n/a
11	YY1	chr11:16629159-16629397	A549	lung:	n/a	n/a
12	YY1	chr11:16628479-16629556	ECC-1	luminal epithelium:	n/a	chr11:16628790-16628801 chr11:16629057-16629068 chr11:16629122-16629133 chr11:16628832-16628846 chr11:16629065-16629074
13	POLR2A	chr11:16627150-16629828	IMR90	lung:	n/a	n/a
14	POLR2A	chr11:16625616-16629563	K562	blood:	n/a	n/a
15	POLR2A	chr11:16626877-16629706	SK-N-MC	brain:	n/a	n/a
16	TAF1	chr11:16628445-16629645	ECC-1	luminal epithelium:	n/a	n/a
17	EP300	chr11:16628268-16629712	ECC-1	luminal epithelium:	n/a	chr11:16629160-16629176 chr11:16629057-16629073 chr11:16629069-16629078
18	MXI1	chr11:16624948-16630305	IMR90	lung:	n/a	chr11:16628126-16628135
19	RCOR1	chr11:16625678-16629651	K562	blood:	n/a	n/a
20	E2F6	chr11:16629235-16629482	K562	blood:	n/a	n/a
21	MAZ	chr11:16625720-16630252	IMR90	lung:	n/a	n/a
22	CHD1	chr11:16629277-16629357	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr11:16629289-16629417	K562	blood:	n/a	n/a
24	POLR2A	chr11:16628391-16629697	K562	blood:	n/a	n/a
25	HDAC2	chr11:16629257-16629518	K562	blood:	n/a	n/a
26	TEAD4	chr11:16629047-16629632	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr11:16629255-16629473	K562	blood:	n/a	n/a
28	EP300	chr11:16629312-16629419	K562	blood:	n/a	n/a
29	CEBPB	chr11:16629270-16629592	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:16629249-16629678	H1-hESC	embryonic stem cell:	n/a	n/a
31	UBTF	chr11:16625601-16629603	K562	blood:	n/a	n/a
32	POLR2A	chr11:16627811-16629786	K562	blood:	n/a	n/a
33	TCF12	chr11:16627187-16629583	ECC-1	luminal epithelium:	n/a	chr11:16627266-16627273
34	YY1	chr11:16629019-16629646	H1-hESC	embryonic stem cell:	n/a	chr11:16629057-16629068 chr11:16629122-16629133 chr11:16629065-16629074
35	CTCF	chr11:16629280-16629430	AG04449	skin:	n/a	n/a
36	TAF1	chr11:16628713-16629575	K562	blood:	n/a	n/a
37	GATA1	chr11:16627336-16629392	PBDE	blood:	n/a	chr11:16628158-16628174
38	RAD21	chr11:16629209-16629581	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBL1XR1	chr11:16629170-16629338	K562	blood:	n/a	n/a
40	TEAD4	chr11:16628656-16629630	ECC-1	luminal epithelium:	n/a	n/a
41	MXI1	chr11:16625932-16630058	SK-N-SH	brain:	n/a	chr11:16628126-16628135
42	MYC	chr11:16629018-16629666	K562	blood:	n/a	n/a
43	MAX	chr11:16627808-16629537	K562	blood:	n/a	n/a
44	TCF12	chr11:16628401-16629624	ECC-1	luminal epithelium:	n/a	n/a
45	SIN3A	chr11:16627469-16629678	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB7A	chr11:16628989-16629510	K562	blood:	n/a	n/a
47	POLR2A	chr11:16628463-16629639	H1-neurons	neurons:	n/a	n/a
48	TAF1	chr11:16628934-16629611	K562	blood:	n/a	n/a
49	KAP1	chr11:16629030-16629898	HEK293	kidney:	n/a	n/a
50	MAX	chr11:16629212-16629490	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16428545..16430895-chr11:16628105..16630228,2	K562	blood:
2	chr11:16035545..16037231-chr11:16626707..16629465,2	K562	blood:

Variant related genes	Relation type
SOX6	TF binding region
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1393928	0.83[EUR][1000 genomes]
rs4132853	0.83[EUR][1000 genomes]
rs4256940	0.83[EUR][1000 genomes]
rs4365016	0.89[EUR][1000 genomes]
rs4375406	0.83[EUR][1000 genomes]
rs4456227	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4573649	0.83[EUR][1000 genomes]
rs4756853	0.83[EUR][1000 genomes]
rs4756859	0.93[EUR][1000 genomes]
rs4757409	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4757412	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55684437	0.97[EUR][1000 genomes]
rs55928688	0.97[EUR][1000 genomes]
rs56153248	0.85[AFR][1000 genomes]
rs56225716	0.83[EUR][1000 genomes]
rs56255909	0.83[EUR][1000 genomes]
rs59872066	0.97[EUR][1000 genomes]
rs66506578	0.97[EUR][1000 genomes]
rs66650309	0.97[EUR][1000 genomes]
rs67055609	0.95[EUR][1000 genomes]
rs67244957	0.97[EUR][1000 genomes]
rs68176835	0.95[EUR][1000 genomes]
rs7115472	0.97[EUR][1000 genomes]
rs7116277	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7120735	0.97[EUR][1000 genomes]
rs7122236	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7131206	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72859412	0.97[EUR][1000 genomes]
rs72859418	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72859435	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72859451	0.97[EUR][1000 genomes]
rs72859457	0.97[EUR][1000 genomes]
rs72859461	0.93[EUR][1000 genomes]
rs72859475	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72859478	0.95[EUR][1000 genomes]
rs72859480	0.97[EUR][1000 genomes]
rs72859488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72859492	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72861207	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861211	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862543	0.85[EUR][1000 genomes]
rs72873319	0.80[EUR][1000 genomes]
rs72873332	0.80[EUR][1000 genomes]
rs72873340	0.80[EUR][1000 genomes]
rs72873349	0.83[EUR][1000 genomes]
rs72873376	0.83[EUR][1000 genomes]
rs72873390	0.83[EUR][1000 genomes]
rs72873400	0.89[EUR][1000 genomes]
rs72875203	0.89[EUR][1000 genomes]
rs72875216	0.95[EUR][1000 genomes]
rs72875219	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72875220	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7925144	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7926202	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7940952	0.97[EUR][1000 genomes]
rs7944054	0.97[EUR][1000 genomes]
rs9667265	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16624800-16629600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:16624800-16630200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:16625000-16629800	Active TSS	Psoas Muscle	Psoas
4	chr11:16625000-16630000	Active TSS	Right Ventricle	heart
5	chr11:16625200-16630000	Active TSS	Left Ventricle	heart
6	chr11:16625200-16630000	Active TSS	Right Atrium	heart
7	chr11:16625400-16629400	Active TSS	Fetal Lung	lung
8	chr11:16625400-16629600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:16625400-16629800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr11:16625400-16629800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
11	chr11:16625600-16629600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:16625600-16629800	Active TSS	Aorta	Aorta
13	chr11:16625600-16629800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:16625600-16629800	Bivalent/Poised TSS	HSMM	muscle
15	chr11:16625600-16630000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:16625600-16630000	Active TSS	Fetal Heart	heart
17	chr11:16625800-16629400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:16625800-16629600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:16625800-16629800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr11:16625800-16629800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:16625800-16630000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:16625800-16630000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:16625800-16630000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr11:16625800-16630200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:16625800-16630600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:16626000-16629400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:16626000-16629400	Bivalent/Poised TSS	Thymus	Thymus
28	chr11:16626000-16629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:16626000-16629600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:16626000-16629600	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr11:16626000-16629600	Active TSS	NHLF	lung
32	chr11:16626000-16630000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:16626200-16629400	Active TSS	Ovary	ovary
34	chr11:16626200-16629400	Active TSS	NHEK	skin
35	chr11:16626200-16629800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:16626800-16629400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr11:16626800-16629400	Bivalent/Poised TSS	NHDF-Ad	bronchial
38	chr11:16627200-16629400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr11:16627400-16630000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr11:16627600-16629400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr11:16627600-16629600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:16627800-16629600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:16627800-16629800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr11:16627800-16629800	Bivalent/Poised TSS	Fetal Kidney	kidney
45	chr11:16627800-16629800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr11:16628000-16629400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:16628000-16629400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr11:16628000-16629600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:16628000-16629600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr11:16628000-16629800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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