Variant report

Variant	rs586706
Chromosome Location	chr11:65133773-65133774
allele	C/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	JUND	chr11:65133773-65134118	K562	blood:	n/a	n/a
2	RUNX3	chr11:65133737-65134083	GM12878	blood:	n/a	n/a
3	RAD21	chr11:65133754-65134141	H1-hESC	embryonic stem cell:	n/a	chr11:65133886-65133905
4	CTCF	chr11:65133737-65134129	T-47D	breast:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
5	MYBL2	chr11:65133682-65134456	HepG2	liver:	n/a	n/a
6	CTCF	chr11:65133701-65134176	A549	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
7	CTCF	chr11:65133712-65134097	IMR90	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
8	FOXM1	chr11:65133653-65134161	GM12878	blood:	n/a	n/a
9	CTCF	chr11:65133756-65134047	HUVEC	blood vessel:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
10	GATA1	chr11:65133753-65135062	K562	blood:	n/a	n/a
11	CTCF	chr11:65133712-65134100	K562	blood:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
12	RAD21	chr11:65133715-65134110	H1-hESC	embryonic stem cell:	n/a	chr11:65133886-65133905
13	CTCF	chr11:65133748-65133992	A549	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
14	RAD21	chr11:65133537-65134481	SK-N-SH	brain:	n/a	chr11:65133886-65133905
15	CTCF	chr11:65133760-65134026	LNCaP	prostate:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
16	SMC3	chr11:65133725-65134160	K562	blood:	n/a	chr11:65133887-65133901
17	ZNF143	chr11:65133750-65134066	GM12878	blood:	n/a	n/a
18	CTCF	chr11:65133760-65133910	GM12801	blood:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
19	CTCF	chr11:65133761-65134033	GM12878	blood:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
20	CTCF	chr11:65133760-65134128	H1-hESC	embryonic stem cell:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
21	MYBL2	chr11:65133693-65134148	HepG2	liver:	n/a	n/a
22	CTCF	chr11:65133758-65134213	HCT-116	colon:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
23	MAX	chr11:65133768-65134093	NB4	blood:	n/a	n/a
24	CTCF	chr11:65133771-65134022	Lung_OC	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
25	RAD21	chr11:65133720-65134155	HepG2	liver:	n/a	chr11:65133886-65133905
26	CTCF	chr11:65133773-65134082	H1-hESC	embryonic stem cell:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
27	SMC3	chr11:65133710-65134180	GM12878	blood:	n/a	chr11:65133887-65133901
28	CTCF	chr11:65133762-65134196	MCF-7	breast:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
29	RAD21	chr11:65133762-65134333	HCT-116	colon:	n/a	chr11:65133886-65133905
30	RFX5	chr11:65133736-65134105	Hela-S3	cervix:	n/a	n/a
31	SMC3	chr11:65133721-65134335	HepG2	liver:	n/a	chr11:65133887-65133901
32	CHD1	chr11:65133762-65134376	IMR90	lung:	n/a	n/a
33	RAD21	chr11:65133771-65134180	MCF-7	breast:	n/a	chr11:65133886-65133905
34	NR2F2	chr11:65133764-65134350	K562	blood:	n/a	n/a
35	RAD21	chr11:65133758-65134163	SK-N-SH_RA	brain:	n/a	chr11:65133886-65133905
36	GTF3C2	chr11:65133526-65134061	Hela-S3	cervix:	n/a	n/a
37	SMC3	chr11:65133738-65134531	SK-N-SH	brain:	n/a	chr11:65133887-65133901
38	CTCF	chr11:65133747-65134119	HepG2	liver:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
39	RAD21	chr11:65133714-65134131	IMR90	lung:	n/a	chr11:65133886-65133905
40	CTCF	chr11:65133743-65134017	A549	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
41	PML	chr11:65133713-65134100	GM12878	blood:	n/a	n/a
42	RAD21	chr11:65133732-65134223	K562	blood:	n/a	chr11:65133886-65133905
43	ZNF384	chr11:65133717-65134077	GM12878	blood:	n/a	n/a
44	RAD21	chr11:65133764-65134087	SK-N-SH_RA	brain:	n/a	chr11:65133886-65133905
45	RAD21	chr11:65133738-65134080	A549	lung:	n/a	chr11:65133886-65133905
46	CTCF	chr11:65133739-65134057	K562	blood:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
47	CTCF	chr11:65133763-65134033	Medullo	brain:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
48	CTCF	chr11:65133773-65134049	Spleen_OC	spleen:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
49	CTCF	chr11:65133772-65134064	A549	lung:	n/a	chr11:65133887-65133908 chr11:65133885-65133903
50	CTCF	chr11:65133706-65134104	GM12878	blood:	n/a	chr11:65133887-65133908 chr11:65133885-65133903

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
2	chr11:65133537..65134417-chr11:65183554..65184219,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255478	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12273468	1.00[AMR][1000 genomes]
rs586768	0.92[AFR][1000 genomes]
rs615768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs681440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
3	chr11:65123800-65134200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:65124000-65133800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:65125600-65134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:65125800-65133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:65126400-65134000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:65127600-65139200	Weak transcription	Left Ventricle	heart
11	chr11:65127800-65134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65127800-65134000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:65128600-65134000	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:65130000-65133800	Weak transcription	Spleen	Spleen
15	chr11:65130400-65142600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:65130600-65133800	Weak transcription	Fetal Thymus	thymus
17	chr11:65130800-65133800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:65131000-65133800	Weak transcription	Primary B cells from cord blood	blood
19	chr11:65131200-65133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:65131200-65133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:65131200-65134000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:65131200-65134000	Weak transcription	GM12878-XiMat	blood
23	chr11:65131400-65134000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:65131400-65138600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:65131600-65133800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:65131600-65133800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65131600-65134000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:65131600-65134000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:65131600-65134000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:65132000-65140800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:65133400-65133800	Enhancers	Hela-S3	cervix
32	chr11:65133400-65133800	Enhancers	K562	blood
33	chr11:65133400-65134000	Enhancers	HepG2	liver
34	chr11:65133400-65134200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:65133400-65135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:65133400-65137000	Enhancers	Fetal Intestine Large	intestine
37	chr11:65133600-65134200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:65133600-65134200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:65133600-65134200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:65133600-65134400	Enhancers	Placenta	Placenta
41	chr11:65133600-65134600	Enhancers	Primary B cells from peripheral blood	blood

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