Variant report

Variant	rs73421517
Chromosome Location	chr11:10921702-10921703
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	chr11:10921375-10922065	HepG2	liver:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
2	RXRA	chr11:10921311-10921818	HepG2	liver:	n/a	n/a
3	YY1	chr11:10920903-10921789	K562	blood:	n/a	n/a
4	JUND	chr11:10921071-10922538	Hela-S3	cervix:	n/a	chr11:10921249-10921258 chr11:10922072-10922083 chr11:10921248-10921257 chr11:10922072-10922084 chr11:10922074-10922082
5	KAP1	chr11:10921048-10922470	U2OS	brain:	n/a	chr11:10922072-10922081 chr11:10921247-10921256 chr11:10921368-10921376
6	STAT3	chr11:10921332-10922495	Hela-S3	cervix:	n/a	chr11:10921723-10921732 chr11:10921724-10921733
7	EP300	chr11:10921188-10922006	ECC-1	luminal epithelium:	n/a	chr11:10921532-10921546 chr11:10921248-10921257
8	UBTF	chr11:10920905-10922531	K562	blood:	n/a	n/a
9	TBP	chr11:10920851-10922537	K562	blood:	n/a	n/a
10	EP300	chr11:10920863-10921880	K562	blood:	n/a	chr11:10921532-10921546 chr11:10921248-10921257
11	SIN3AK20	chr11:10921163-10922047	MCF-7	breast:	n/a	n/a
12	JUND	chr11:10920316-10922626	K562	blood:	n/a	chr11:10921249-10921258 chr11:10922072-10922083 chr11:10921248-10921257 chr11:10922072-10922084 chr11:10922074-10922082
13	MEF2A	chr11:10921032-10922375	SK-N-SH	brain:	n/a	chr11:10921249-10921257 chr11:10922098-10922119 chr11:10922074-10922082
14	EP300	chr11:10921135-10922461	SK-N-SH	brain:	n/a	chr11:10922042-10922052 chr11:10921532-10921546 chr11:10921248-10921257
15	POLR2A	chr11:10921014-10922249	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr11:10920547-10922392	A549	lung:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921248-10921257 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10922073-10922082 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
17	MEF2A	chr11:10921223-10922389	SK-N-SH	brain:	n/a	chr11:10921249-10921257 chr11:10922098-10922119 chr11:10922074-10922082
18	POLR2A	chr11:10920995-10922529	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr11:10920803-10922452	Hela-S3	cervix:	n/a	n/a
20	MAX	chr11:10920781-10922270	SK-N-SH	brain:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921248-10921257 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10922073-10922082 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
21	SPI1	chr11:10921286-10921906	HL-60	blood:	n/a	chr11:10921534-10921547 chr11:10921536-10921545
22	POLR2A	chr11:10920838-10922276	U87	brain:	n/a	n/a
23	KAP1	chr11:10920923-10922155	HEK293	kidney:	n/a	chr11:10922072-10922081 chr11:10921247-10921256 chr11:10921368-10921376
24	CCNT2	chr11:10920660-10922111	K562	blood:	n/a	n/a
25	USF1	chr11:10921303-10922135	A549	lung:	n/a	chr11:10921685-10921696
26	HEY1	chr11:10920868-10921961	K562	blood:	n/a	n/a
27	NR2F2	chr11:10921442-10922164	MCF-7	breast:	n/a	n/a
28	SPI1	chr11:10921304-10921719	GM12891	blood:	n/a	chr11:10921534-10921547 chr11:10921536-10921545
29	JUN	chr11:10921109-10922268	Hela-S3	cervix:	n/a	chr11:10921249-10921258 chr11:10921248-10921257 chr11:10922072-10922084 chr11:10922074-10922082
30	STAT3	chr11:10921022-10922174	MCF10A-Er-Src	breast:	n/a	chr11:10921099-10921111 chr11:10921723-10921732 chr11:10921724-10921733 chr11:10921103-10921115
31	POLR2A	chr11:10919701-10922115	K562	blood:	n/a	n/a
32	MAX	chr11:10921426-10921938	HepG2	liver:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
33	CEBPB	chr11:10921061-10921799	K562	blood:	n/a	n/a
34	RXRA	chr11:10920956-10922404	SK-N-SH	brain:	n/a	chr11:10922110-10922124
35	MAX	chr11:10920937-10921958	K562	blood:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921248-10921257 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
36	POLR2A	chr11:10920922-10922204	Hela-S3	cervix:	n/a	n/a
37	YY1	chr11:10921288-10921821	HCT-116	colon:	n/a	n/a
38	FOS	chr11:10921025-10922265	MCF10A-Er-Src	breast:	n/a	chr11:10921249-10921258 chr11:10921248-10921257 chr11:10922072-10922084 chr11:10922074-10922082
39	GATA1	chr11:10920952-10921775	K562	blood:	n/a	chr11:10921134-10921143 chr11:10921120-10921127 chr11:10921118-10921128 chr11:10921120-10921130 chr11:10921118-10921127
40	MAX	chr11:10920390-10922692	A549	lung:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921248-10921257 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10922073-10922082 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
41	BCL3	chr11:10921050-10922393	A549	lung:	n/a	chr11:10921666-10921675
42	POLR2A	chr11:10921008-10922180	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:10921600-10921750	HVMF	connective:	n/a	n/a
44	GABPA	chr11:10921305-10922284	A549	lung:	n/a	n/a
45	JUN	chr11:10920550-10922245	K562	blood:	n/a	chr11:10921249-10921258 chr11:10921248-10921257 chr11:10922072-10922084 chr11:10922074-10922082
46	MYC	chr11:10920817-10922174	MCF10A-Er-Src	breast:	n/a	chr11:10921687-10921696 chr11:10921688-10921695 chr11:10921248-10921257 chr11:10921686-10921696 chr11:10921685-10921698 chr11:10922073-10922082 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921685-10921698 chr11:10921687-10921697 chr11:10921686-10921697 chr11:10921687-10921696 chr11:10921686-10921697 chr11:10921685-10921698
47	SIN3AK20	chr11:10921390-10922112	A549	lung:	n/a	n/a
48	EP300	chr11:10921472-10921706	GM12878	blood:	n/a	chr11:10921532-10921546
49	TAF1	chr11:10920925-10921901	K562	blood:	n/a	n/a
50	GABPA	chr11:10921089-10921746	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10878373..10879971-chr11:10921409..10923522,2	K562	blood:
2	chr11:10879244..10881247-chr11:10920882..10923524,3	MCF-7	breast:
3	chr11:10915504..10918548-chr11:10920897..10924348,4	MCF-7	breast:
4	chr11:10826076..10833422-chr11:10919439..10926200,37	K562	blood:
5	chr11:10921154..10921779-chr17:76311976..76312622,2	Hela-S3	cervix:
6	chr11:10814402..10816636-chr11:10921182..10923120,2	MCF-7	breast:
7	chr11:10827715..10832278-chr11:10919370..10923074,11	MCF-7	breast:
8	chr11:9592632..9596503-chr11:10921457..10923316,3	MCF-7	breast:
9	chr11:10877728..10881491-chr11:10917238..10922801,13	MCF-7	breast:
10	chr11:10921478..10922254-chr20:30192991..30193642,2	Hela-S3	cervix:
11	chr11:10812898..10815742-chr11:10921648..10923841,2	MCF-7	breast:
12	chr11:10826424..10832562-chr11:10915178..10926428,37	K562	blood:
13	chr11:10828290..10831014-chr11:10918789..10923225,8	MCF-7	breast:
14	chr1:210547059..210547823-chr11:10920890..10921723,2	Hela-S3	cervix:
15	chr11:10815731..10817842-chr11:10920957..10923081,3	K562	blood:
16	chr11:10913680..10917054-chr11:10921039..10922872,3	MCF-7	breast:
17	chr11:10875813..10884237-chr11:10918851..10925690,14	K562	blood:
18	chr11:10772465..10774192-chr11:10921347..10922884,2	K562	blood:

Variant related genes	Relation type
ENSG00000250041	TF binding region
ENSG00000200972	Chromatin interaction
ENSG00000198730	Chromatin interaction
ENSG00000247271	Chromatin interaction
ENSG00000236287	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000125968	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11042942	1.00[EUR][1000 genomes]
rs11822861	1.00[EUR][1000 genomes]
rs11823290	1.00[EUR][1000 genomes]
rs2232912	1.00[EUR][1000 genomes]
rs58366863	1.00[EUR][1000 genomes]
rs58432384	1.00[EUR][1000 genomes]
rs59239356	1.00[EUR][1000 genomes]
rs59882147	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60370256	1.00[EUR][1000 genomes]
rs61997166	1.00[EUR][1000 genomes]
rs73419666	1.00[EUR][1000 genomes]
rs73419669	1.00[EUR][1000 genomes]
rs73419674	1.00[EUR][1000 genomes]
rs73419676	1.00[EUR][1000 genomes]
rs73419678	1.00[EUR][1000 genomes]
rs73419688	1.00[EUR][1000 genomes]
rs73419698	1.00[EUR][1000 genomes]
rs73419699	1.00[EUR][1000 genomes]
rs73419702	1.00[EUR][1000 genomes]
rs73421505	1.00[EUR][1000 genomes]
rs73421506	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73421514	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73421516	0.83[AFR][1000 genomes]
rs73421520	1.00[EUR][1000 genomes]
rs73421534	1.00[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	nsv1040606	chr11:10763753-10995698	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	nsv1038686	chr11:10903482-11269086	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:10918800-10922800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:10919000-10925400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:10919200-10922800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:10919400-10922600	Enhancers	Esophagus	oesophagus
5	chr11:10919600-10922800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:10919600-10922800	Enhancers	Left Ventricle	heart
7	chr11:10919600-10922800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:10919600-10923000	Enhancers	Placenta	Placenta
9	chr11:10919800-10922000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:10919800-10922000	Enhancers	GM12878-XiMat	blood
11	chr11:10919800-10922600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:10919800-10922600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:10919800-10922600	Enhancers	Lung	lung
14	chr11:10919800-10922600	Enhancers	Right Atrium	heart
15	chr11:10919800-10922600	Flanking Active TSS	HSMM	muscle
16	chr11:10919800-10922800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:10919800-10922800	Flanking Active TSS	K562	blood
18	chr11:10920000-10921800	Enhancers	Gastric	stomach
19	chr11:10920000-10922000	Enhancers	Small Intestine	intestine
20	chr11:10920000-10922000	Flanking Active TSS	HMEC	breast
21	chr11:10920000-10922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:10920000-10922600	Enhancers	Fetal Stomach	stomach
23	chr11:10920000-10922600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:10920200-10922600	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:10920200-10922800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:10920200-10922800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:10920200-10922800	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:10920200-10922800	Enhancers	Fetal Intestine Large	intestine
29	chr11:10920200-10922800	Flanking Active TSS	Hela-S3	cervix
30	chr11:10920400-10922400	Enhancers	Fetal Thymus	thymus
31	chr11:10920400-10922600	Enhancers	Fetal Intestine Small	intestine
32	chr11:10920400-10922600	Flanking Active TSS	A549	lung
33	chr11:10920400-10922800	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:10920400-10922800	Enhancers	Adipose Nuclei	Adipose
35	chr11:10920400-10922800	Enhancers	Fetal Lung	lung
36	chr11:10920600-10922600	Enhancers	Aorta	Aorta
37	chr11:10920600-10922600	Flanking Active TSS	Osteobl	bone
38	chr11:10920600-10922800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:10920800-10922000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:10920800-10922200	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:10920800-10922400	Enhancers	Pancreas	Pancrea
42	chr11:10920800-10922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:10920800-10922600	Enhancers	Brain Angular Gyrus	brain
44	chr11:10920800-10922600	Enhancers	Brain Substantia Nigra	brain
45	chr11:10921000-10921800	Flanking Active TSS	HSMMtube	muscle
46	chr11:10921000-10922000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:10921000-10922200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:10921000-10922200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:10921000-10922400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:10921000-10922400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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