Variant report

Variant	rs72939192
Chromosome Location	chr11:65433319-65433320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65432744..65435442-chr11:65438657..65440719,2	K562	blood:
2	chr11:65430389..65432258-chr11:65432727..65436084,3	MCF-7	breast:
3	chr11:65432730..65434956-chr11:65444237..65446926,2	MCF-7	breast:
4	chr11:65428216..65430448-chr11:65431994..65433831,2	K562	blood:

Variant related genes	Relation type
ENSG00000173039	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227270	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11227271	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11605773	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17491607	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645915	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4645932	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs559064	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs604615	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs605952	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs617980	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72939200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941018	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941051	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs732072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
4	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS 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 miRNA target site	102 gene(s)	inside rSNPs	diseases
5	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	107 gene(s)	inside rSNPs	diseases
6	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
9	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65431400-65434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:65431400-65435400	Weak transcription	Spleen	Spleen
3	chr11:65431600-65433400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:65431600-65434200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:65431600-65434400	Weak transcription	Psoas Muscle	Psoas
6	chr11:65431800-65434200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:65431800-65435200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65432000-65433800	Weak transcription	Left Ventricle	heart
9	chr11:65432000-65434400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:65432000-65435000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:65432000-65435000	Weak transcription	Right Ventricle	heart
12	chr11:65432000-65435000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:65432000-65435400	Weak transcription	Thymus	Thymus
14	chr11:65432000-65435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65432000-65435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:65432000-65435800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:65432000-65437000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:65432200-65434800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:65432200-65434800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:65432200-65435000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:65432200-65435000	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:65432200-65435400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:65432200-65440200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:65432400-65435000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:65432400-65435600	Weak transcription	Primary B cells from cord blood	blood
26	chr11:65432400-65439400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:65432600-65435000	Weak transcription	Primary T cells fromperipheralblood	blood

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