Variant report

Variant	rs575479
Chromosome Location	chr11:65690300-65690301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65689639-65690360	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:65689396-65691287	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:65689307-65691343	PANC-1	pancreas:	n/a	n/a
4	SPI1	chr11:65689927-65690442	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:65689290-65690929	U87	brain:	n/a	n/a
6	POLR2A	chr11:65689971-65690495	HL-60	blood:	n/a	n/a
7	POLR2A	chr11:65689764-65690555	U87	brain:	n/a	n/a
8	POLR2A	chr11:65690259-65690515	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65690056-65690706	U87	brain:	n/a	n/a
10	POLR2A	chr11:65689295-65690582	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
2	chr11:65686026..65690385-chr11:65711034..65716101,7	MCF-7	breast:
3	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
4	chr11:65478095..65481080-chr11:65686637..65690416,3	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf68	TF binding region
ENSG00000175513	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10160792	0.82[AMR][1000 genomes]
rs1058068	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1204649	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12361552	0.88[EUR][1000 genomes]
rs12797319	0.80[EUR][1000 genomes]
rs470192	0.83[EUR][1000 genomes]
rs491973	0.83[EUR][1000 genomes]
rs500161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528736	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs550435	0.81[EUR][1000 genomes]
rs556643	0.83[EUR][1000 genomes]
rs574586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs589253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590318	0.87[EUR][1000 genomes]
rs606978	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs617791	0.85[EUR][1000 genomes]
rs61893932	0.87[EUR][1000 genomes]
rs642293	0.83[EUR][1000 genomes]
rs653236	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs653914	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs660118	0.83[EUR][1000 genomes]
rs674363	0.82[EUR][1000 genomes]
rs677029	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs694156	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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv972039	chr11:65688555-65692860	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65687600-65690800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:65687600-65691000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65688000-65690600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
5	chr11:65688000-65691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:65688000-65692400	Weak transcription	Fetal Kidney	kidney
7	chr11:65688200-65691000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:65688200-65691200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:65688200-65695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:65688400-65690600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:65688400-65694600	Weak transcription	K562	blood
12	chr11:65688600-65690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:65688600-65690600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:65688600-65690600	Strong transcription	Lung	lung
15	chr11:65688600-65690600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:65688600-65690600	Genic enhancers	NHDF-Ad	bronchial
17	chr11:65688600-65690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:65688600-65690800	Strong transcription	Right Ventricle	heart
19	chr11:65688600-65691000	Strong transcription	Brain Substantia Nigra	brain
20	chr11:65688600-65691200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:65688600-65691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:65688600-65691600	Weak transcription	Psoas Muscle	Psoas
23	chr11:65688600-65692200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:65688600-65692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:65688600-65692800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:65688600-65692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:65688600-65692800	Strong transcription	Fetal Intestine Small	intestine
28	chr11:65688600-65693400	Strong transcription	Placenta	Placenta
29	chr11:65688600-65695000	Weak transcription	HepG2	liver
30	chr11:65688600-65699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:65688800-65690600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:65688800-65691000	Strong transcription	Adipose Nuclei	Adipose
33	chr11:65688800-65691000	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:65688800-65691200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:65688800-65691200	Strong transcription	Brain Anterior Caudate	brain
36	chr11:65688800-65691400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:65688800-65692600	Strong transcription	Fetal Thymus	thymus
38	chr11:65688800-65692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:65688800-65692800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:65688800-65693000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:65688800-65693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:65688800-65693200	Strong transcription	Thymus	Thymus
43	chr11:65688800-65693400	Strong transcription	Fetal Brain Female	brain
44	chr11:65688800-65693600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:65688800-65694000	Strong transcription	Fetal Stomach	stomach
46	chr11:65688800-65694000	Strong transcription	Osteobl	bone
47	chr11:65688800-65694600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:65688800-65695200	Weak transcription	Small Intestine	intestine
49	chr11:65688800-65695200	Weak transcription	Stomach Mucosa	stomach
50	chr11:65688800-65715000	Weak transcription	Right Atrium	heart

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