Variant report

Variant	rs72941051
Chromosome Location	chr11:65478893-65478894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:65478670-65479577	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:65478698-65478949	HUVEC	blood vessel:	n/a	n/a
3	UBTF	chr11:65478783-65478939	K562	blood:	n/a	n/a
4	SRF	chr11:65478637-65479160	ECC-1	luminal epithelium:	n/a	n/a
5	MAZ	chr11:65478769-65478955	K562	blood:	n/a	n/a
6	FOXA2	chr11:65478584-65479031	A549	lung:	n/a	n/a
7	ZNF384	chr11:65478632-65479877	K562	blood:	n/a	n/a
8	CTCF	chr11:65478720-65480186	HCT-116	colon:	n/a	chr11:65479382-65479400 chr11:65479384-65479405
9	RCOR1	chr11:65478688-65480260	K562	blood:	n/a	n/a
10	SRF	chr11:65478774-65479113	GM12878	blood:	n/a	n/a
11	MYC	chr11:65478847-65478978	K562	blood:	n/a	n/a
12	HCFC1	chr11:65478662-65480724	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:65478786-65480828	PANC-1	pancreas:	n/a	n/a
14	TAF1	chr11:65478738-65480005	K562	blood:	n/a	n/a
15	NR2F2	chr11:65478852-65480469	K562	blood:	n/a	n/a
16	YY1	chr11:65478770-65479083	K562	blood:	n/a	n/a
17	YY1	chr11:65478779-65480078	GM12878	blood:	n/a	chr11:65479728-65479748 chr11:65479734-65479746 chr11:65480010-65480021
18	RAD21	chr11:65478726-65480389	HCT-116	colon:	n/a	n/a
19	MYC	chr11:65478738-65480224	K562	blood:	n/a	chr11:65479486-65479495 chr11:65479486-65479495 chr11:65479378-65479388 chr11:65479486-65479495
20	YY1	chr11:65478666-65480074	GM12878	blood:	n/a	chr11:65479728-65479748 chr11:65479734-65479746 chr11:65480010-65480021
21	E2F6	chr11:65478765-65479060	K562	blood:	n/a	n/a
22	BHLHE40	chr11:65478841-65478914	K562	blood:	n/a	n/a
23	RAD21	chr11:65478604-65480549	SK-N-SH	brain:	n/a	n/a
24	MAX	chr11:65478858-65478989	K562	blood:	n/a	n/a
25	HMGN3	chr11:65478818-65478973	K562	blood:	n/a	n/a
26	TAF1	chr11:65478823-65479080	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:65478691-65480682	K562	blood:	n/a	n/a
28	CTCF	chr11:65478630-65480497	SK-N-SH	brain:	n/a	chr11:65479382-65479400 chr11:65479384-65479405
29	CTCF	chr11:65478880-65479030	GM12867	blood:	n/a	n/a
30	YY1	chr11:65478708-65479062	K562	blood:	n/a	n/a
31	USF1	chr11:65478792-65479996	K562	blood:	n/a	chr11:65479485-65479494 chr11:65479484-65479497 chr11:65479486-65479495 chr11:65479487-65479496 chr11:65479486-65479495 chr11:65479480-65479501
32	CBX3	chr11:65478810-65480364	K562	blood:	n/a	n/a
33	POLR2A	chr11:65478704-65481047	K562	blood:	n/a	n/a
34	MAX	chr11:65478647-65480350	K562	blood:	n/a	chr11:65479486-65479495 chr11:65479486-65479495 chr11:65479378-65479388 chr11:65479486-65479495
35	POLR2A	chr11:65478629-65480643	HUVEC	blood vessel:	n/a	n/a
36	SRF	chr11:65478830-65479050	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65478893-65478943	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:65478893-65478943	BE2_C	brain:	n/a
3	chr11:65478893-65478943	PANC-1	pancreas:	n/a
4	chr11:65478893-65478943	PrEC	prostate:	n/a
5	chr11:65478893-65478943	ovcar-3	ovarian:	n/a
6	chr11:65478893-65478943	A549	lung:	n/a
7	chr11:65478893-65478943	NHBE	bronchial:	n/a
8	chr11:65478893-65478943	LNCaP	prostate:	n/a
9	chr11:65478893-65478943	MCF-7	breast:	n/a
10	chr11:65478893-65478943	NHDF-neo	bronchial:	n/a
11	chr11:65478893-65478943	K562	blood:	n/a
12	chr11:65478893-65478943	ProgFib	skin:	n/a
13	chr11:65478893-65478943	AG09309	skin:	n/a
14	chr11:65478893-65478943	SK-N-SH_RA	brain:	n/a
15	chr11:65478893-65478943	GM12892	blood:	n/a
16	chr11:65478893-65478943	NH-A	brain:	n/a
17	chr11:65478893-65478943	Hela-S3	cervix:	n/a
18	chr11:65478893-65478943	HEEpiC	esophagus:	n/a
19	chr11:65478893-65478943	HAEpiC	amniotic membrane:	n/a
20	chr11:65478893-65478943	HRCEpiC	kidney:	n/a
21	chr11:65478893-65478943	AoSMC	blood vessel:	n/a
22	chr11:65478893-65478943	HRE	kidney:	n/a
23	chr11:65478893-65478943	AG04449	skin:	fetal
24	chr11:65478893-65478943	RPTEC	kidney:	n/a
25	chr11:65478893-65478943	HNPCEpiC	eye:	n/a
26	chr11:65478893-65478943	HCPEpiC	choroid plexus:	n/a
27	chr11:65478893-65478943	HUVEC	blood vessel:	n/a
28	chr11:65478893-65478943	HepG2	liver:	n/a
29	chr11:65478893-65478943	GM06990	blood:	n/a
30	chr11:65478893-65478943	SAEC	small airway:	n/a
31	chr11:65478893-65478943	SKMC	muscle:	n/a
32	chr11:65478893-65478943	CMK	blood:	n/a
33	chr11:65478893-65478943	Jurkat	blood:	n/a
34	chr11:65478893-65478943	HRPEpiC	eye:	n/a
35	chr11:65478893-65478943	Caco-2	colon:	n/a
36	chr11:65478893-65478943	SK-N-SH	brain:	n/a
37	chr11:65478893-65478943	HCF	heart:	n/a
38	chr11:65478893-65478943	GM12891	blood:	n/a
39	chr11:65478893-65478943	MCF10A-Er-Src	breast:	n/a
40	chr11:65478893-65478943	Hepatocyte	liver:	n/a
41	chr11:65478893-65478943	PFSK-1	brain:	n/a
42	chr11:65478893-65478943	HMEC	breast:	n/a
43	chr11:65478893-65478943	NT2-D1	testis:	n/a
44	chr11:65478893-65478943	ECC-1	luminal epithelium:	n/a
45	chr11:65478893-65478943	AG10803	skin:	n/a
46	chr11:65478893-65478943	GM12878	blood:	n/a
47	chr11:65478893-65478943	IMR90	lung:	fetal
48	chr11:65478893-65478943	AG04450	lung:	fetal
49	chr11:65478893-65478943	GM19239	blood:	n/a
50	chr11:65478893-65478943	HL-60	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65404733..65406830-chr11:65478478..65481431,2	K562	blood:
2	chr11:65478750..65480920-chr11:65651843..65654065,2	MCF-7	breast:
3	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
4	chr11:65428607..65431563-chr11:65477387..65481608,5	MCF-7	breast:
5	chr11:65474484..65476042-chr11:65477819..65479417,2	K562	blood:
6	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
7	chr11:65477979..65480813-chr11:65636240..65639820,3	K562	blood:
8	chr11:65430466..65432280-chr11:65478658..65481830,3	K562	blood:
9	chr11:65477796..65479455-chr11:65581611..65583170,2	K562	blood:
10	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
11	chr11:65477911..65483635-chr11:65545629..65549670,11	K562	blood:
12	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:
13	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
14	chr11:65477923..65479953-chr11:65556662..65559648,2	K562	blood:
15	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
16	chr11:65478312..65481456-chr11:65546233..65549223,4	MCF-7	breast:
17	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
18	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
19	chr11:65478230..65480937-chr11:65556981..65559484,3	MCF-7	breast:
20	chr11:65379507..65381898-chr11:65478593..65480836,3	MCF-7	breast:
21	chr11:65478611..65480184-chr11:65654546..65656636,2	MCF-7	breast:
22	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:
23	chr11:65477805..65481127-chr11:65728001..65731482,4	MCF-7	breast:
24	chr11:65478425..65481343-chr11:65547533..65549097,2	MCF-7	breast:
25	chr11:65477746..65479994-chr11:65651413..65653781,3	K562	blood:
26	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
27	chr11:65477139..65479296-chr11:65581106..65583170,2	K562	blood:
28	chr11:65471574..65474478-chr11:65475750..65478986,4	K562	blood:
29	chr11:65478523..65481403-chr11:65546217..65549249,4	K562	blood:
30	chr11:65478433..65481069-chr11:65493417..65495213,3	K562	blood:
31	chr11:65478491..65482258-chr11:65493417..65497237,3	K562	blood:

No data

Variant related genes	Relation type
KAT5	TF binding region
KAT5	CpG island
ENSG00000254470	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000214659	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11227270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11605773	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17491607	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4645915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4645932	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs559064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs604615	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605952	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72939192	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72939200	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72941004	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72941018	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs732072	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65477200-65479000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:65477200-65479000	Enhancers	NHDF-Ad	bronchial
3	chr11:65477600-65479400	Weak transcription	Stomach Mucosa	stomach
4	chr11:65478000-65479000	Enhancers	HUVEC	blood vessel
5	chr11:65478000-65479200	Enhancers	HMEC	breast
6	chr11:65478000-65480200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:65478400-65479000	Weak transcription	NHLF	lung
8	chr11:65478400-65480400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:65478600-65479000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:65478600-65479000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:65478600-65479000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:65478600-65479000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:65478600-65479000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:65478600-65479000	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr11:65478600-65479000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:65478600-65479000	Flanking Active TSS	Colonic Mucosa	Colon
17	chr11:65478600-65479000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:65478600-65479000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:65478600-65479000	Flanking Active TSS	Fetal Brain Female	brain
20	chr11:65478600-65479000	Enhancers	Right Ventricle	heart
21	chr11:65478600-65479000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:65478600-65479000	Flanking Active TSS	Dnd41	blood
23	chr11:65478600-65479000	Enhancers	NHEK	skin
24	chr11:65478600-65479000	Flanking Active TSS	Osteobl	bone
25	chr11:65478600-65479200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr11:65478600-65479200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:65478600-65479200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:65478600-65479200	Enhancers	Fetal Brain Male	brain
29	chr11:65478600-65479200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr11:65478600-65479200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr11:65478600-65479400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:65478600-65479400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr11:65478600-65479600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:65478600-65480000	Active TSS	Primary T cells from cord blood	blood
35	chr11:65478600-65480000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:65478600-65480000	Active TSS	NH-A	brain
37	chr11:65478600-65480200	Active TSS	Brain Anterior Caudate	brain
38	chr11:65478600-65480200	Active TSS	Colon Smooth Muscle	Colon
39	chr11:65478600-65480200	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:65478800-65479000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:65478800-65479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:65478800-65479000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:65478800-65479000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:65478800-65479000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:65478800-65479000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr11:65478800-65479000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:65478800-65479000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:65478800-65479000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:65478800-65479000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:65478800-65479000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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