Variant report

Variant	rs73496441
Chromosome Location	chr11:65691011-65691012
allele	A/C
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	chr11:65689396-65691287	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:65689307-65691343	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:65690758-65691192	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
2	chr11:65690547..65693010-chr11:65707576..65709212,2	MCF-7	breast:
3	chr11:65690883..65692815-chr11:65804692..65807223,2	K562	blood:

Variant related genes	Relation type
C11orf68	TF binding region
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57529806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58364577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58980853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60614643	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60979377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61492129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66602960	0.81[AFR][1000 genomes]
rs73496414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496436	0.97[AFR][1000 genomes];1.00[AMR][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	chr11:65687800-65699800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65688000-65691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65688000-65692400	Weak transcription	Fetal Kidney	kidney
4	chr11:65688200-65691200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:65688200-65695200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:65688400-65694600	Weak transcription	K562	blood
7	chr11:65688600-65691200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:65688600-65691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:65688600-65691600	Weak transcription	Psoas Muscle	Psoas
10	chr11:65688600-65692200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:65688600-65692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:65688600-65692800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:65688600-65692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:65688600-65692800	Strong transcription	Fetal Intestine Small	intestine
15	chr11:65688600-65693400	Strong transcription	Placenta	Placenta
16	chr11:65688600-65695000	Weak transcription	HepG2	liver
17	chr11:65688600-65699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:65688800-65691200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:65688800-65691200	Strong transcription	Brain Anterior Caudate	brain
20	chr11:65688800-65691400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:65688800-65692600	Strong transcription	Fetal Thymus	thymus
22	chr11:65688800-65692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:65688800-65692800	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:65688800-65693000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:65688800-65693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:65688800-65693200	Strong transcription	Thymus	Thymus
27	chr11:65688800-65693400	Strong transcription	Fetal Brain Female	brain
28	chr11:65688800-65693600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:65688800-65694000	Strong transcription	Fetal Stomach	stomach
30	chr11:65688800-65694000	Strong transcription	Osteobl	bone
31	chr11:65688800-65694600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:65688800-65695200	Weak transcription	Small Intestine	intestine
33	chr11:65688800-65695200	Weak transcription	Stomach Mucosa	stomach
34	chr11:65688800-65715000	Weak transcription	Right Atrium	heart
35	chr11:65689000-65692200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:65689000-65693400	Strong transcription	Brain Germinal Matrix	brain
37	chr11:65689000-65693800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:65689000-65694000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:65689400-65691400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:65689400-65691400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:65689400-65692800	Strong transcription	Spleen	Spleen
42	chr11:65689600-65691200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:65689600-65691200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:65689600-65691200	Strong transcription	Liver	Liver
45	chr11:65689600-65691200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:65689600-65691200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:65689600-65691200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:65689600-65691400	Strong transcription	Primary B cells from cord blood	blood
49	chr11:65689600-65691400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:65689600-65692600	Strong transcription	Fetal Lung	lung

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