Variant report

Variant	rs57365630
Chromosome Location	chr11:64666866-64666867
allele	C/T
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	POLR2A	chr11:64666788-64667147	K562	blood:	n/a	n/a
2	POLR2A	chr11:64666670-64666898	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64666655-64667309	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:64666494-64666933	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:64666547-64667255	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64666648..64668980-chr11:64673080..64675787,2	MCF-7	breast:
2	chr11:64665690..64669100-chr11:64680856..64683309,4	MCF-7	breast:
3	chr11:64665335..64667406-chr11:64669626..64671577,2	MCF-7	breast:

Variant related genes	Relation type
ATG2A	TF binding region
ENSG00000110046	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11827610	0.94[EUR][1000 genomes]
rs12286941	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35079323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35115827	0.97[EUR][1000 genomes]
rs3867127	0.91[EUR][1000 genomes]
rs57393537	0.83[EUR][1000 genomes]
rs59677833	0.94[EUR][1000 genomes]
rs60711419	0.97[EUR][1000 genomes]
rs60798873	0.83[EUR][1000 genomes]
rs61024397	0.83[EUR][1000 genomes]
rs61741079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61742063	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628595	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs643949	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs647489	0.83[EUR][1000 genomes]
rs7102350	0.94[EUR][1000 genomes]
rs7113751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7942472	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs885999	0.83[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
2	chr11:64656000-64674200	Weak transcription	NH-A	brain
3	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
4	chr11:64656000-64683200	Weak transcription	HSMM	muscle
5	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
6	chr11:64656600-64668800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:64656600-64683400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:64656800-64674200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:64657000-64682600	Weak transcription	Fetal Heart	heart
10	chr11:64657000-64683600	Weak transcription	Fetal Kidney	kidney
11	chr11:64658000-64667600	Weak transcription	Hela-S3	cervix
12	chr11:64658600-64683400	Weak transcription	Fetal Brain Male	brain
13	chr11:64661000-64670600	Weak transcription	Small Intestine	intestine
14	chr11:64661400-64671600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:64661400-64672800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:64661400-64682200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:64661800-64667600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:64661800-64667600	Weak transcription	HSMMtube	muscle
19	chr11:64661800-64667800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:64661800-64672600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:64661800-64677200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:64662000-64667800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:64662000-64671400	Strong transcription	Ovary	ovary
24	chr11:64662000-64671400	Strong transcription	Dnd41	blood
25	chr11:64662000-64671600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:64662000-64671600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:64662000-64671600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:64662000-64671800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr11:64662000-64673400	Strong transcription	Gastric	stomach
30	chr11:64662000-64682200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:64662000-64682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:64662000-64682200	Strong transcription	Brain Hippocampus Middle	brain
33	chr11:64662200-64667000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr11:64662200-64667800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:64662200-64671200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:64662200-64671400	Strong transcription	Brain Cingulate Gyrus	brain
37	chr11:64662200-64671400	Strong transcription	Fetal Brain Female	brain
38	chr11:64662200-64671400	Strong transcription	Lung	lung
39	chr11:64662200-64671400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:64662200-64671400	Strong transcription	NHLF	lung
41	chr11:64662200-64671600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:64662200-64671600	Strong transcription	Brain Germinal Matrix	brain
43	chr11:64662200-64671800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:64662200-64672800	Weak transcription	Stomach Mucosa	stomach
45	chr11:64662200-64682000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:64662200-64682000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:64662200-64682200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:64662200-64682200	Strong transcription	Adipose Nuclei	Adipose
49	chr11:64662200-64682200	Strong transcription	Thymus	Thymus
50	chr11:64662200-64682400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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