Variant report

Variant	rs28722681
Chromosome Location	chr11:66623291-66623292
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	SIN3AK20	chr11:66622963-66624547	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:66623045-66624876	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:66623180-66624705	GM18505	blood:	n/a	n/a
4	ZMIZ1	chr11:66623221-66623829	K562	blood:	n/a	n/a
5	HEY1	chr11:66623013-66623850	K562	blood:	n/a	chr11:66623247-66623262
6	POLR2A	chr11:66623180-66624243	K562	blood:	n/a	n/a
7	MAX	chr11:66623113-66625993	A549	lung:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
8	ELF1	chr11:66623023-66624347	MCF-7	breast:	n/a	chr11:66623588-66623601 chr11:66623679-66623688 chr11:66623496-66623507
9	SPI1	chr11:66623172-66623881	HL-60	blood:	n/a	chr11:66623495-66623508 chr11:66623496-66623505
10	POLR2A	chr11:66623284-66624725	K562	blood:	n/a	n/a
11	MAX	chr11:66623258-66624690	H1-hESC	embryonic stem cell:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
12	MYC	chr11:66623249-66625137	NB4	blood:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
13	POU2F2	chr11:66623027-66624214	GM12878	blood:	n/a	chr11:66623268-66623281 chr11:66623268-66623281
14	POLR2A	chr11:66623111-66624496	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:66623174-66624382	HL-60	blood:	n/a	n/a
16	BHLHE40	chr11:66623188-66624557	K562	blood:	n/a	chr11:66624452-66624468 chr11:66623932-66623948 chr11:66624427-66624443
17	USF2	chr11:66623109-66623443	GM12878	blood:	n/a	n/a
18	TFAP2A	chr11:66623246-66624473	Hela-S3	cervix:	n/a	chr11:66624307-66624318 chr11:66623704-66623716 chr11:66623784-66623796 chr11:66624308-66624320 chr11:66623677-66623688 chr11:66624307-66624318
19	POLR2A	chr11:66623089-66624666	GM12878	blood:	n/a	n/a
20	RAD21	chr11:66623242-66624015	ECC-1	luminal epithelium:	n/a	chr11:66623402-66623412
21	POLR2A	chr11:66623282-66624953	NB4	blood:	n/a	n/a
22	POLR2A	chr11:66623091-66625146	HCT-116	colon:	n/a	n/a
23	POLR2A	chr11:66623242-66623850	U87	brain:	n/a	n/a
24	HDAC2	chr11:66623218-66624343	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:66623099-66624217	K562	blood:	n/a	n/a
26	MAX	chr11:66623274-66624680	K562	blood:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
27	MXI1	chr11:66622977-66625281	SK-N-SH	brain:	n/a	chr11:66623405-66623414 chr11:66624011-66624020
28	POLR2A	chr11:66623260-66623838	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:66622919-66624804	GM12892	blood:	n/a	n/a
30	TAF1	chr11:66623236-66623847	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:66622396-66626093	K562	blood:	n/a	n/a
32	POLR2A	chr11:66623140-66624350	PBDE	blood:	n/a	n/a
33	ELF1	chr11:66623208-66624265	GM12878	blood:	n/a	chr11:66623588-66623601 chr11:66623679-66623688 chr11:66623496-66623507
34	STAT5A	chr11:66623246-66624327	GM12878	blood:	n/a	chr11:66623495-66623502 chr11:66623967-66623979
35	POLR2A	chr11:66623028-66624454	HL-60	blood:	n/a	n/a
36	POLR2A	chr11:66623168-66624622	GM18526	blood:	n/a	n/a
37	MAX	chr11:66623213-66625093	NB4	blood:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
38	GATA3	chr11:66623128-66623496	T-47D	breast:	n/a	n/a
39	BCL3	chr11:66622931-66624385	A549	lung:	n/a	chr11:66623960-66623969 chr11:66623708-66623721 chr11:66623938-66623951
40	GTF2F1	chr11:66623264-66623736	Hela-S3	cervix:	n/a	chr11:66623637-66623648
41	POLR2A	chr11:66623149-66624180	K562	blood:	n/a	n/a
42	POLR2A	chr11:66623038-66625089	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr11:66623143-66624714	MCF-7	breast:	n/a	n/a
44	MAZ	chr11:66623085-66625260	IMR90	lung:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
45	CTCF	chr11:66623160-66623310	HCPEpiC	choroid plexus:	n/a	n/a
46	TEAD4	chr11:66623120-66623908	K562	blood:	n/a	n/a
47	MAX	chr11:66623028-66624661	MCF-7	breast:	n/a	chr11:66623698-66623708 chr11:66623971-66623981 chr11:66624505-66624514 chr11:66624506-66624513
48	TBL1XR1	chr11:66623165-66623823	K562	blood:	n/a	n/a
49	PML	chr11:66623144-66623872	K562	blood:	n/a	n/a
50	MAFK	chr11:66623208-66623705	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66622711..66625527-chr11:66724179..66726308,4	K562	blood:
2	chr11:66620817..66623976-chr11:66646170..66651314,5	MCF-7	breast:
3	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
4	chr11:66620776..66623722-chr11:66770531..66772844,2	K562	blood:
5	chr11:66434007..66436161-chr11:66621311..66623871,2	MCF-7	breast:
6	chr11:66443818..66445925-chr11:66621731..66624355,2	MCF-7	breast:
7	chr11:66495324..66496963-chr11:66622871..66625454,2	MCF-7	breast:
8	chr11:66573949..66576686-chr11:66622283..66624008,2	MCF-7	breast:
9	chr11:66623215..66623786-chr17:37793119..37793760,2	Hela-S3	cervix:
10	chr11:66621632..66623459-chr17:59486792..59489353,2	MCF-7	breast:
11	chr11:66382703..66385380-chr11:66622167..66625173,4	MCF-7	breast:
12	chr11:66441690..66444071-chr11:66620456..66623383,2	K562	blood:
13	chr11:66382895..66384620-chr11:66621136..66623710,2	MCF-7	breast:
14	chr11:66622451..66624283-chr11:66723652..66727104,3	K562	blood:
15	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:
16	chr11:66623163..66623994-chr11:73881622..73882552,2	NB4	blood:
17	chr11:64781519..64783137-chr11:66622872..66625514,2	MCF-7	breast:

Variant related genes	Relation type
PC	TF binding region
LRFN4	TF binding region
ENSG00000213465	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000258297	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11820790	1.00[MEX][hapmap]
rs12576918	1.00[MEX][hapmap]
rs2276140	1.00[MEX][hapmap]

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	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	esv3436093	chr11:66622376-66626574	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66617800-66623400	Weak transcription	Ovary	ovary
2	chr11:66623000-66623400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:66623000-66623400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66623000-66623400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr11:66623000-66623400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:66623000-66623400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:66623000-66623400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr11:66623000-66623400	Flanking Active TSS	Fetal Brain Female	brain
9	chr11:66623000-66623400	Flanking Active TSS	HepG2	liver
10	chr11:66623000-66623400	Enhancers	HMEC	breast
11	chr11:66623000-66623600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:66623000-66623600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66623000-66623600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:66623000-66623600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:66623000-66623600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:66623000-66623600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:66623000-66623600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:66623000-66623600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:66623000-66623600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:66623000-66623600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr11:66623000-66623600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr11:66623000-66623600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:66623000-66623600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:66623000-66623600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr11:66623000-66623600	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr11:66623000-66623600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr11:66623000-66623600	Flanking Active TSS	Fetal Lung	lung
28	chr11:66623000-66623600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr11:66623000-66623600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:66623000-66623600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:66623000-66623600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:66623000-66623600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:66623000-66623600	Flanking Active TSS	A549	lung
34	chr11:66623000-66623600	Flanking Active TSS	GM12878-XiMat	blood
35	chr11:66623000-66623600	Flanking Active TSS	Hela-S3	cervix
36	chr11:66623000-66623600	Flanking Active TSS	HSMM	muscle
37	chr11:66623000-66623600	Flanking Active TSS	K562	blood
38	chr11:66623000-66623600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:66623000-66623800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:66623000-66623800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:66623000-66623800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:66623000-66623800	Flanking Active TSS	Dnd41	blood
43	chr11:66623000-66624200	Active TSS	Fetal Kidney	kidney
44	chr11:66623000-66625400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:66623000-66625400	Active TSS	NHLF	lung
46	chr11:66623200-66623400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66623200-66623400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:66623200-66623400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:66623200-66623400	Active TSS	Primary T cells from cord blood	blood
50	chr11:66623200-66623400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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