Variant report

Variant	rs72930951
Chromosome Location	chr11:65766360-65766361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65749395..65751656-chr11:65763529..65766422,3	K562	blood:
2	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
3	chr11:65764048..65767930-chr11:65768133..65771443,5	MCF-7	breast:
4	chr11:65764589..65766874-chr11:65774811..65776588,2	K562	blood:
5	chr11:65755347..65758083-chr11:65763733..65766415,2	K562	blood:
6	chr11:65743310..65746046-chr11:65763797..65766517,3	MCF-7	breast:
7	chr11:65748017..65751656-chr11:65762573..65766422,5	K562	blood:

Variant related genes	Relation type
ENSG00000175334	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000087365	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11545221	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12574568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575004	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575514	0.91[ASN][1000 genomes]
rs12575735	0.93[ASN][1000 genomes]
rs12576095	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576287	0.99[ASN][1000 genomes]
rs12577165	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577625	0.91[ASN][1000 genomes]
rs2276015	0.91[ASN][1000 genomes]
rs2276017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277305	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372938	0.91[ASN][1000 genomes]
rs3825068	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57968007	0.90[ASN][1000 genomes]
rs58905199	0.91[ASN][1000 genomes]
rs59156593	0.90[EUR][1000 genomes]
rs61515492	0.86[ASN][1000 genomes]
rs67232706	0.89[ASN][1000 genomes]
rs67530871	0.89[ASN][1000 genomes]
rs72928826	0.90[EUR][1000 genomes]
rs72928828	0.91[ASN][1000 genomes]
rs72928830	0.91[ASN][1000 genomes]
rs72928831	0.84[ASN][1000 genomes]
rs72928860	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928879	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928892	0.85[EUR][1000 genomes]
rs72928895	0.85[EUR][1000 genomes]
rs72928898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930912	0.85[EUR][1000 genomes]
rs72930914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930958	0.85[EUR][1000 genomes]
rs72930964	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930967	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930974	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930976	0.85[EUR][1000 genomes]
rs72930978	0.85[EUR][1000 genomes]
rs72930984	0.85[EUR][1000 genomes]
rs72930985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943575	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
2	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
3	chr11:65755200-65766800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65757400-65767600	Weak transcription	Stomach Mucosa	stomach
5	chr11:65761200-65767400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:65761200-65767800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65761800-65767400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:65761800-65767600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:65761800-65767600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:65762000-65767400	Strong transcription	Fetal Thymus	thymus
11	chr11:65762200-65767600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:65762200-65767600	Strong transcription	Fetal Stomach	stomach
13	chr11:65762400-65767000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:65762400-65767600	Strong transcription	Primary T cells from cord blood	blood
15	chr11:65762400-65767600	Strong transcription	Thymus	Thymus
16	chr11:65762400-65767800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:65762400-65767800	Strong transcription	NHEK	skin
18	chr11:65762600-65767400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:65762800-65767600	Strong transcription	Fetal Intestine Small	intestine
20	chr11:65763000-65767800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:65763600-65767600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:65764000-65767200	Strong transcription	Brain Germinal Matrix	brain
23	chr11:65764000-65767600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:65764000-65767600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:65764000-65767600	Strong transcription	Brain Substantia Nigra	brain
26	chr11:65764000-65767600	Strong transcription	Placenta	Placenta
27	chr11:65764000-65767800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:65764000-65767800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:65764000-65768600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:65764200-65766800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:65764200-65767000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:65764200-65767000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:65764200-65767400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:65764200-65767400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr11:65764200-65767400	Strong transcription	Liver	Liver
36	chr11:65764200-65767400	Strong transcription	Spleen	Spleen
37	chr11:65764200-65767600	Strong transcription	Primary B cells from cord blood	blood
38	chr11:65764200-65767600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:65764200-65767600	Strong transcription	Adipose Nuclei	Adipose
40	chr11:65764200-65767600	Strong transcription	Brain Anterior Caudate	brain
41	chr11:65764200-65767600	Strong transcription	Colon Smooth Muscle	Colon
42	chr11:65764200-65767600	Strong transcription	Gastric	stomach
43	chr11:65764200-65767600	Strong transcription	Right Ventricle	heart
44	chr11:65764200-65767600	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:65764200-65767600	Strong transcription	A549	lung
46	chr11:65764200-65767600	Strong transcription	HMEC	breast
47	chr11:65764200-65767600	Strong transcription	HSMMtube	muscle
48	chr11:65764200-65767800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:65764200-65767800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr11:65764200-65767800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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