Variant report

Variant	rs58009266
Chromosome Location	chr11:64683773-64683774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:64683557-64685214	Hela-S3	cervix:	n/a	n/a
2	MYC	chr11:64683703-64684072	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
3	ZKSCAN1	chr11:64683526-64684213	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:64683547-64684110	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:64683714-64684081	GM12878	blood:	n/a	n/a
6	SP1	chr11:64683697-64684108	GM12878	blood:	n/a	n/a
7	MYC	chr11:64683685-64684261	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
8	SIN3AK20	chr11:64683682-64684000	SK-N-SH	brain:	n/a	n/a
9	FOXA1	chr11:64683729-64684184	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:64683593-64684118	GM12878	blood:	n/a	n/a
11	TCF3	chr11:64683677-64684142	GM12878	blood:	n/a	n/a
12	MXI1	chr11:64683651-64685147	HepG2	liver:	n/a	n/a
13	CREB1	chr11:64683644-64684203	GM12878	blood:	n/a	n/a
14	MXI1	chr11:64683493-64686214	SK-N-SH	brain:	n/a	n/a
15	SMARCC1	chr11:64683344-64684789	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr11:64683756-64684077	K562	blood:	n/a	n/a
17	ELF1	chr11:64683455-64684056	K562	blood:	n/a	n/a
18	RUNX3	chr11:64683714-64684323	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64683716-64684299	HL-60	blood:	n/a	n/a
20	CHD2	chr11:64683524-64684277	Hela-S3	cervix:	n/a	n/a
21	MAX	chr11:64683490-64684116	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
22	FOXP2	chr11:64683561-64684154	PFSK-1	brain:	n/a	n/a
23	RFX5	chr11:64683486-64684111	Hela-S3	cervix:	n/a	n/a
24	MYC	chr11:64683736-64683977	MCF-7	breast:	n/a	chr11:64683765-64683775
25	NR2F2	chr11:64683263-64684223	K562	blood:	n/a	n/a
26	POLR2A	chr11:64682720-64685449	Hela-S3	cervix:	n/a	n/a
27	MAX	chr11:64683731-64684174	GM12878	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
28	FOXA1	chr11:64683614-64684192	HepG2	liver:	n/a	n/a
29	FOXP2	chr11:64683748-64684100	SK-N-MC	brain:	n/a	n/a
30	CHD2	chr11:64683671-64684169	GM12878	blood:	n/a	n/a
31	MAX	chr11:64683714-64684341	HepG2	liver:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
32	MAX	chr11:64683433-64685238	HepG2	liver:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
33	HEY1	chr11:64683309-64685509	K562	blood:	n/a	n/a
34	SIN3AK20	chr11:64683724-64683965	A549	lung:	n/a	n/a
35	SIN3AK20	chr11:64683747-64684064	PFSK-1	brain:	n/a	n/a
36	MYC	chr11:64683772-64684141	HUVEC	blood vessel:	n/a	chr11:64683992-64684008
37	GTF2F1	chr11:64683540-64684154	Hela-S3	cervix:	n/a	n/a
38	FOXA1	chr11:64683676-64684134	T-47D	breast:	n/a	n/a
39	MAX	chr11:64683309-64685177	K562	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
40	NFYA	chr11:64683440-64684052	Hela-S3	cervix:	n/a	n/a
41	ELF1	chr11:64683538-64684109	K562	blood:	n/a	n/a
42	RUNX3	chr11:64683695-64684208	GM12878	blood:	n/a	n/a
43	MYC	chr11:64683721-64684138	NB4	blood:	n/a	chr11:64683992-64684008 chr11:64683765-64683775
44	PML	chr11:64683744-64684921	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:64683583-64684063	HepG2	liver:	n/a	n/a
46	FOXA2	chr11:64683604-64684245	A549	lung:	n/a	n/a
47	CREB1	chr11:64683600-64685290	HepG2	liver:	n/a	n/a
48	ELF1	chr11:64683683-64684135	GM12878	blood:	n/a	n/a
49	BHLHE40	chr11:64683577-64684134	K562	blood:	n/a	n/a
50	POLR2A	chr11:64683490-64684117	Hela-S3	cervix:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683710..64686843-chr11:64689150..64693843,9	MCF-7	breast:
2	chr11:64683667..64685834-chr11:64900771..64903507,2	K562	blood:
3	chr11:64683512..64686373-chr11:64701129..64703249,2	MCF-7	breast:
4	chr11:64644179..64646943-chr11:64683100..64687957,8	MCF-7	breast:
5	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
6	chr11:64659914..64665589-chr11:64679566..64685622,11	K562	blood:
7	chr11:64682222..64684241-chr11:64876478..64880891,3	K562	blood:
8	chr11:64644503..64648099-chr11:64683052..64686363,9	K562	blood:
9	chr11:64651561..64659485-chr11:64681552..64686807,18	K562	blood:
10	chr11:64682623..64685328-chr11:64870943..64873387,2	MCF-7	breast:
11	chr11:64681545..64685255-chr11:64700864..64703818,3	K562	blood:
12	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
13	chr11:64653740..64655395-chr11:64682265..64684591,2	MCF-7	breast:
14	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
15	chr11:64681374..64684228-chr11:64726680..64729016,2	K562	blood:
16	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
17	chr11:64664073..64665620-chr11:64682984..64684733,2	MCF-7	breast:
18	chr11:64646527..64648346-chr11:64683617..64685265,2	MCF-7	breast:
19	chr11:64644520..64646273-chr11:64683342..64685362,3	MCF-7	breast:
20	chr11:64683299..64686210-chr11:64705910..64707683,2	K562	blood:
21	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
22	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
23	chr11:64682450..64685608-chr11:64808232..64811277,3	MCF-7	breast:
24	chr11:64681374..64684228-chr11:64725451..64729016,3	K562	blood:
25	chr11:64681631..64684611-chr11:64749836..64752402,2	K562	blood:
26	chr11:64683241..64683979-chr6:26216076..26217019,2	Hela-S3	cervix:
27	chr11:64682424..64684524-chr11:64927254..64929359,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG2A	TF binding region
PPP2R5B	TF binding region
ENSG00000162298	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000255058	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10897531	1.00[EUR][1000 genomes]
rs11231888	1.00[EUR][1000 genomes]
rs11231892	1.00[EUR][1000 genomes]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs35197993	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61746813	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73474781	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73481122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494264	1.00[EUR][1000 genomes]
rs73494273	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs73496391	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv555209	chr11:64661532-64684288	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64682600-64683800	Flanking Active TSS	Hela-S3	cervix
2	chr11:64682800-64683800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:64682800-64684000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:64682800-64684000	Enhancers	Small Intestine	intestine
5	chr11:64682800-64684200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:64683000-64683800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:64683000-64683800	Enhancers	Spleen	Spleen
8	chr11:64683000-64684000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:64683000-64684000	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr11:64683000-64684200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:64683000-64684200	Flanking Active TSS	Placenta	Placenta
12	chr11:64683000-64684200	Flanking Active TSS	K562	blood
13	chr11:64683000-64684600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:64683200-64683800	Flanking Active TSS	NHLF	lung
15	chr11:64683200-64684000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:64683200-64684000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr11:64683200-64684000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr11:64683200-64684000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:64683200-64684000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:64683200-64684000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr11:64683200-64684000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr11:64683200-64684000	Flanking Active TSS	HepG2	liver
23	chr11:64683200-64684200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr11:64683200-64684200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:64683200-64684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:64683200-64684200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:64683200-64684200	Flanking Active TSS	Fetal Brain Female	brain
28	chr11:64683200-64684200	Flanking Active TSS	Dnd41	blood
29	chr11:64683200-64684200	Flanking Active TSS	NHEK	skin
30	chr11:64683200-64684400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:64683200-64684400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr11:64683200-64684400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:64683200-64684400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:64683200-64684600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr11:64683200-64684600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:64683400-64683800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr11:64683400-64683800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:64683400-64683800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:64683400-64683800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:64683400-64683800	Flanking Active TSS	Gastric	stomach
41	chr11:64683400-64683800	Flanking Active TSS	Thymus	Thymus
42	chr11:64683400-64683800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr11:64683400-64684000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:64683400-64684000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:64683400-64684000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:64683400-64684000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:64683400-64684000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:64683400-64684000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:64683400-64684000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:64683400-64684000	Flanking Active TSS	Brain Hippocampus Middle	brain

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