Variant report

Variant	rs606412
Chromosome Location	chr11:64687921-64687922
allele	A/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	EBF1	chr11:64687916-64688166	GM12878	blood:	n/a	chr11:64688049-64688060 chr11:64688049-64688062 chr11:64688021-64688032
2	EBF1	chr11:64687869-64688147	GM12878	blood:	n/a	chr11:64688049-64688060 chr11:64688049-64688062 chr11:64688021-64688032

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	chr11:64508723..64511147-chr11:64687170..64689312,2	K562	blood:

Variant related genes	Relation type
ATG2A	TF binding region
PPP2R5B	TF binding region
ENSG00000068971	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068831	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]
rs601805	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:103 , 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	chr11:64685800-64688000	Enhancers	Fetal Muscle Leg	muscle
11	chr11:64685800-64691000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:64685800-64691000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:64685800-64691000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:64685800-64691000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:64685800-64691000	Weak transcription	Fetal Brain Male	brain
16	chr11:64685800-64691000	Weak transcription	Fetal Brain Female	brain
17	chr11:64685800-64691000	Weak transcription	Right Ventricle	heart
18	chr11:64685800-64691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:64685800-64691200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:64685800-64691200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:64685800-64691200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:64685800-64691200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:64685800-64691200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:64685800-64691200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:64685800-64691200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:64685800-64691200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:64685800-64691200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:64685800-64691200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:64685800-64691200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:64685800-64691200	Weak transcription	HUVEC	blood vessel
31	chr11:64685800-64691200	Weak transcription	NHEK	skin
32	chr11:64685800-64691400	Weak transcription	NHDF-Ad	bronchial
33	chr11:64686000-64688000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:64686000-64688000	Enhancers	HepG2	liver
35	chr11:64686000-64690600	Weak transcription	Brain Angular Gyrus	brain
36	chr11:64686000-64690600	Weak transcription	Pancreas	Pancrea
37	chr11:64686000-64690800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:64686000-64690800	Weak transcription	Lung	lung
39	chr11:64686000-64691000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:64686000-64691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:64686000-64691000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:64686000-64691000	Weak transcription	Brain Germinal Matrix	brain
43	chr11:64686000-64691000	Weak transcription	Brain Substantia Nigra	brain
44	chr11:64686000-64691000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:64686000-64691000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:64686000-64691000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:64686000-64691000	Weak transcription	Osteobl	bone
48	chr11:64686000-64691200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:64686000-64691200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:64686000-64691200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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