Variant report

Variant	rs60798873
Chromosome Location	chr11:64692312-64692313
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	MYBL2	chr11:64691281-64692362	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:64691394-64692426	SK-N-MC	brain:	n/a	n/a
3	GABPA	chr11:64691433-64692378	SK-N-SH	brain:	n/a	chr11:64692135-64692144
4	TEAD4	chr11:64691277-64692343	K562	blood:	n/a	n/a
5	CTBP2	chr11:64691984-64692376	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:64691324-64692406	A549	lung:	n/a	n/a
7	MXI1	chr11:64691096-64693091	SK-N-SH	brain:	n/a	n/a
8	CEBPD	chr11:64691896-64692337	HepG2	liver:	n/a	n/a
9	PBX3	chr11:64691300-64692392	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:64691976-64692424	K562	blood:	n/a	n/a
11	RFX5	chr11:64691381-64692321	Hela-S3	cervix:	n/a	n/a
12	REST	chr11:64692041-64692331	K562	blood:	n/a	n/a
13	JUND	chr11:64691252-64692359	K562	blood:	n/a	chr11:64692348-64692357 chr11:64692349-64692358 chr11:64691691-64691702 chr11:64691589-64691598
14	JUND	chr11:64691296-64692325	T-47D	breast:	n/a	chr11:64691691-64691702 chr11:64691589-64691598
15	POLR2A	chr11:64692131-64692331	MCF10A-Er-Src	breast:	n/a	n/a
16	ELF1	chr11:64691376-64692312	SK-N-SH	brain:	n/a	chr11:64692206-64692218 chr11:64692292-64692304
17	MAZ	chr11:64691435-64692319	HepG2	liver:	n/a	n/a
18	TCF12	chr11:64691335-64692715	A549	lung:	n/a	chr11:64692131-64692138 chr11:64692081-64692091 chr11:64692171-64692181
19	HDAC2	chr11:64691991-64692350	HepG2	liver:	n/a	n/a
20	ATF3	chr11:64691353-64692332	A549	lung:	n/a	chr11:64691586-64691601 chr11:64692100-64692114 chr11:64692061-64692070
21	ATF2	chr11:64691270-64692415	GM12878	blood:	n/a	chr11:64692097-64692111
22	MAX	chr11:64691442-64692340	Hela-S3	cervix:	n/a	n/a
23	PAX5	chr11:64691436-64692386	GM12878	blood:	n/a	n/a
24	SP1	chr11:64691886-64692382	GM12878	blood:	n/a	chr11:64691947-64691956
25	MAX	chr11:64691967-64692423	H1-hESC	embryonic stem cell:	n/a	n/a
26	ETS1	chr11:64691340-64692351	A549	lung:	n/a	chr11:64691642-64691655 chr11:64692069-64692082 chr11:64692128-64692141 chr11:64691621-64691634
27	MAX	chr11:64691247-64692372	ECC-1	luminal epithelium:	n/a	n/a
28	MTA3	chr11:64691253-64692354	GM12878	blood:	n/a	n/a
29	TRIM28	chr11:64691463-64692330	K562	blood:	n/a	n/a
30	CBX3	chr11:64691365-64692316	K562	blood:	n/a	n/a
31	ELF1	chr11:64691449-64692424	MCF-7	breast:	n/a	chr11:64692383-64692392 chr11:64692206-64692218 chr11:64692292-64692304
32	POLR2A	chr11:64691152-64692541	HUVEC	blood vessel:	n/a	n/a
33	HCFC1	chr11:64690835-64693264	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr11:64691991-64692351	K562	blood:	n/a	n/a
35	E2F4	chr11:64691592-64692368	K562	blood:	n/a	chr11:64691944-64691956 chr11:64692105-64692115
36	CEBPD	chr11:64691885-64692360	K562	blood:	n/a	n/a
37	ETS1	chr11:64691402-64692320	GM12878	blood:	n/a	chr11:64691642-64691655 chr11:64692069-64692082 chr11:64692128-64692141 chr11:64691621-64691634
38	RUNX3	chr11:64691350-64692321	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:64691943-64692446	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr11:64691137-64692551	MCF-7	breast:	n/a	n/a
41	JUND	chr11:64691298-64692416	SK-N-SH	brain:	n/a	chr11:64692348-64692357 chr11:64692349-64692358 chr11:64691691-64691702 chr11:64691589-64691598
42	TAF1	chr11:64691860-64692333	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:64691357-64692787	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr11:64691933-64692341	SK-N-SH	brain:	n/a	n/a
45	CREB1	chr11:64691377-64692423	GM12878	blood:	n/a	chr11:64691587-64691600
46	SIN3A	chr11:64691364-64692685	H1-hESC	embryonic stem cell:	n/a	chr11:64692595-64692603 chr11:64692174-64692185 chr11:64692388-64692399 chr11:64691597-64691607
47	GABPA	chr11:64691543-64692378	HL-60	blood:	n/a	chr11:64692135-64692144
48	POLR2A	chr11:64691490-64692349	Raji	blood:	n/a	n/a
49	ELF1	chr11:64691252-64692383	MCF-7	breast:	n/a	chr11:64692206-64692218 chr11:64692292-64692304
50	POLR2A	chr11:64691959-64692541	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64683710..64686843-chr11:64689150..64693843,9	MCF-7	breast:
2	chr11:64644628..64647764-chr11:64688767..64693294,4	K562	blood:
3	chr11:64690425..64693604-chr11:64763571..64767241,5	K562	blood:
4	chr11:64691560..64693195-chr11:64879142..64881140,2	K562	blood:
5	chr11:64689194..64695395-chr11:64699461..64704301,10	K562	blood:
6	chr11:64691280..64693124-chr11:64764223..64766017,2	K562	blood:
7	chr11:64644764..64647368-chr11:64690531..64692792,2	K562	blood:
8	chr11:64656447..64658087-chr11:64690436..64693458,3	K562	blood:
9	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
10	chr11:64691117..64693562-chr11:64726636..64728966,2	K562	blood:
11	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
12	chr11:64691650..64693175-chr11:64855147..64856721,2	K562	blood:
13	chr11:64545186..64547005-chr11:64690556..64693336,2	K562	blood:
14	chr11:64656447..64658087-chr11:64690436..64693410,2	K562	blood:
15	chr11:64680208..64683169-chr11:64690299..64692795,2	MCF-7	breast:
16	chr11:64689666..64692617-chr11:64726636..64729077,2	K562	blood:
17	chr11:64610201..64612402-chr11:64690717..64693183,2	MCF-7	breast:
18	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
19	chr11:64692310..64694370-chr11:64695188..64697596,2	MCF-7	breast:
20	chr11:64692132..64694352-chr11:64806387..64808974,2	K562	blood:
21	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
22	chr11:64691374..64695669-chr11:64701131..64705582,6	MCF-7	breast:

Variant related genes	Relation type
PPP2R5B	TF binding region
ENSG00000269038	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000187066	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12286941	0.83[EUR][1000 genomes]
rs17146506	0.84[EUR][1000 genomes]
rs35079323	0.83[EUR][1000 genomes]
rs35115827	0.81[EUR][1000 genomes]
rs4320955	0.84[EUR][1000 genomes]
rs57365630	0.83[EUR][1000 genomes]
rs57393537	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401184	0.84[EUR][1000 genomes]
rs60711419	0.81[EUR][1000 genomes]
rs60935617	0.84[EUR][1000 genomes]
rs61024397	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61741079	0.83[EUR][1000 genomes]
rs61742063	0.83[EUR][1000 genomes]
rs628595	0.94[EUR][1000 genomes]
rs643949	0.94[EUR][1000 genomes]
rs647489	1.00[EUR][1000 genomes]
rs664997	0.95[EUR][1000 genomes]
rs7113751	0.83[EUR][1000 genomes]
rs7482817	0.84[EUR][1000 genomes]
rs7942472	0.83[EUR][1000 genomes]
rs885999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 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	chr11:64691000-64693000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:64691200-64692600	Active TSS	Colonic Mucosa	Colon
3	chr11:64691200-64693000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:64691200-64693200	Active TSS	Psoas Muscle	Psoas
5	chr11:64691200-64693200	Flanking Active TSS	Dnd41	blood
6	chr11:64691200-64693600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:64691400-64692600	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:64691400-64692800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr11:64691400-64693000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr11:64691400-64693000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:64691400-64693000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:64691400-64693000	Active TSS	Gastric	stomach
13	chr11:64691400-64693000	Active TSS	Ovary	ovary
14	chr11:64691400-64693200	Active TSS	Aorta	Aorta
15	chr11:64691400-64693600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:64691600-64692400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:64691600-64692400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:64691600-64692600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:64691600-64692600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:64691600-64692600	Active TSS	Primary T cells from cord blood	blood
21	chr11:64691600-64692600	Active TSS	Brain Angular Gyrus	brain
22	chr11:64691600-64692600	Active TSS	Right Ventricle	heart
23	chr11:64691600-64692800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:64691600-64692800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:64691600-64692800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:64691600-64692800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:64691600-64692800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:64691600-64692800	Active TSS	Brain Anterior Caudate	brain
29	chr11:64691600-64692800	Active TSS	Brain Substantia Nigra	brain
30	chr11:64691600-64692800	Active TSS	Colon Smooth Muscle	Colon
31	chr11:64691600-64692800	Active TSS	Fetal Kidney	kidney
32	chr11:64691600-64692800	Active TSS	Left Ventricle	heart
33	chr11:64691600-64692800	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:64691600-64692800	Active TSS	Small Intestine	intestine
35	chr11:64691600-64693000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:64691600-64693000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:64691600-64693000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:64691600-64693000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr11:64691600-64693000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:64691600-64693000	Flanking Active TSS	Fetal Thymus	thymus
41	chr11:64691600-64693000	Active TSS	Lung	lung
42	chr11:64691600-64693000	Active TSS	A549	lung
43	chr11:64691600-64693000	Bivalent/Poised TSS	HepG2	liver
44	chr11:64691600-64693000	Active TSS	NHDF-Ad	bronchial
45	chr11:64691600-64693200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:64691600-64693400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:64691600-64693400	Active TSS	Pancreas	Pancrea
48	chr11:64691800-64692600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:64691800-64692600	Active TSS	Stomach Mucosa	stomach
50	chr11:64691800-64692800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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