Variant report

Variant	rs601805
Chromosome Location	chr11:64686853-64686854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64686843-64686932	HepG2	liver:	n/a	n/a
2	CTCF	chr11:64686800-64686950	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr11:64686800-64686950	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:64686840-64686990	AG09309	skin:	n/a	n/a
5	CTCF	chr11:64686760-64686910	HMEC	breast:	n/a	n/a
6	CTCF	chr11:64686780-64686930	HRE	kidney:	n/a	n/a
7	CTCF	chr11:64686800-64686950	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr11:64686760-64686910	AG04449	skin:	n/a	n/a
9	CTCF	chr11:64686820-64686970	RPTEC	kidney:	n/a	n/a
10	CTCF	chr11:64686760-64686910	HepG2	liver:	n/a	n/a
11	CTCF	chr11:64686760-64686910	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr11:64686780-64686930	AG04450	lung:	n/a	n/a
13	CTCF	chr11:64686780-64686930	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr11:64686820-64686970	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:64686800-64686950	HCPEpiC	choroid plexus:	n/a	n/a
16	ZNF384	chr11:64686730-64686936	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683317..64685181-chr11:64685906..64688920,3	MCF-7	breast:
2	chr11:64644179..64646943-chr11:64683100..64687957,8	MCF-7	breast:
3	chr11:64684182..64687060-chr11:64693697..64696129,2	K562	blood:
4	chr11:64684925..64687410-chr11:64879641..64882846,3	MCF-7	breast:
5	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:

No data

Variant related genes	Relation type
ATG2A	TF binding region
ENSG00000213465	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12293826	0.89[AMR][1000 genomes]
rs2904963	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs601047	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606412	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740228	0.89[AMR][1000 genomes]
rs619328	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs628595	0.81[ASW][hapmap]
rs630585	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs632555	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635603	0.88[AFR][1000 genomes]
rs677805	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684250	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113740	0.89[AMR][1000 genomes]
rs7925178	0.85[YRI][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	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64684800-64691000	Weak transcription	Gastric	stomach
2	chr11:64684800-64691000	Weak transcription	Spleen	Spleen
3	chr11:64685400-64690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64685400-64691200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:64685400-64691400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64685600-64691000	Weak transcription	HMEC	breast
7	chr11:64685600-64691200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:64685600-64691200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:64685600-64691400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:64685800-64687000	Enhancers	Fetal Thymus	thymus
11	chr11:64685800-64687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:64685800-64687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:64685800-64687800	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:64685800-64688000	Enhancers	Fetal Muscle Leg	muscle
15	chr11:64685800-64691000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:64685800-64691000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:64685800-64691000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:64685800-64691000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:64685800-64691000	Weak transcription	Fetal Brain Male	brain
20	chr11:64685800-64691000	Weak transcription	Fetal Brain Female	brain
21	chr11:64685800-64691000	Weak transcription	Right Ventricle	heart
22	chr11:64685800-64691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:64685800-64691200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:64685800-64691200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:64685800-64691200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:64685800-64691200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:64685800-64691200	Weak transcription	Primary T cells from cord blood	blood
28	chr11:64685800-64691200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:64685800-64691200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:64685800-64691200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:64685800-64691200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:64685800-64691200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:64685800-64691200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:64685800-64691200	Weak transcription	HUVEC	blood vessel
35	chr11:64685800-64691200	Weak transcription	NHEK	skin
36	chr11:64685800-64691400	Weak transcription	NHDF-Ad	bronchial
37	chr11:64686000-64687000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:64686000-64687000	Weak transcription	Fetal Kidney	kidney
39	chr11:64686000-64687200	Weak transcription	Fetal Heart	heart
40	chr11:64686000-64687400	Weak transcription	GM12878-XiMat	blood
41	chr11:64686000-64687800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:64686000-64688000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:64686000-64688000	Enhancers	HepG2	liver
44	chr11:64686000-64690600	Weak transcription	Brain Angular Gyrus	brain
45	chr11:64686000-64690600	Weak transcription	Pancreas	Pancrea
46	chr11:64686000-64690800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:64686000-64690800	Weak transcription	Lung	lung
48	chr11:64686000-64691000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:64686000-64691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:64686000-64691000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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