Variant report

Variant	rs72930912
Chromosome Location	chr11:65759720-65759721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65684400..65687504-chr11:65755771..65760818,5	MCF-7	breast:
2	chr11:65752788..65755729-chr11:65758294..65759811,2	K562	blood:
3	chr11:65758856..65761840-chr11:65835793..65837474,2	MCF-7	breast:
4	chr11:65758842..65760410-chr11:65788361..65790977,2	MCF-7	breast:
5	chr11:65759662..65761884-chr11:65763291..65764975,2	MCF-7	breast:
6	chr11:65754920..65762066-chr11:65768032..65772490,9	K562	blood:
7	chr11:65759257..65761081-chr11:65768976..65770919,2	MCF-7	breast:
8	chr11:65755754..65758071-chr11:65759625..65762366,2	K562	blood:
9	chr11:65758864..65760871-chr11:65762649..65765214,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175334	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12574568	0.85[EUR][1000 genomes]
rs12576095	0.85[EUR][1000 genomes]
rs12577165	0.85[EUR][1000 genomes]
rs2276017	0.85[EUR][1000 genomes]
rs2277305	0.85[EUR][1000 genomes]
rs3825068	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72926898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes]
rs72928851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928868	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72928884	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928898	0.85[EUR][1000 genomes]
rs72928900	0.85[EUR][1000 genomes]
rs72930914	0.85[EUR][1000 genomes]
rs72930933	0.85[EUR][1000 genomes]
rs72930942	0.85[EUR][1000 genomes]
rs72930945	0.81[EUR][1000 genomes]
rs72930951	0.85[EUR][1000 genomes]
rs72930952	0.85[EUR][1000 genomes]
rs72930956	0.85[EUR][1000 genomes]
rs72930958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930964	0.85[EUR][1000 genomes]
rs72930967	0.85[EUR][1000 genomes]
rs72930974	0.85[EUR][1000 genomes]
rs72930976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930985	0.90[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv819658	chr11:65757756-65764902	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr11:65741200-65765000	Weak transcription	NHDF-Ad	bronchial
4	chr11:65741400-65762000	Weak transcription	HSMMtube	muscle
5	chr11:65741600-65762000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:65742200-65759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:65743800-65764800	Weak transcription	HSMM	muscle
8	chr11:65745000-65764200	Weak transcription	HUVEC	blood vessel
9	chr11:65745200-65764800	Weak transcription	K562	blood
10	chr11:65745400-65764800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:65745400-65765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:65745600-65764200	Weak transcription	NH-A	brain
13	chr11:65745800-65764800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:65746000-65764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:65746800-65765000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:65747000-65764200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:65747000-65764600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:65747000-65764600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:65747000-65764600	Weak transcription	Ovary	ovary
20	chr11:65747000-65764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:65747200-65759800	Weak transcription	Lung	lung
22	chr11:65747200-65764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:65747200-65764200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:65747200-65764200	Weak transcription	Liver	Liver
25	chr11:65747200-65764200	Weak transcription	A549	lung
26	chr11:65747200-65764400	Weak transcription	Left Ventricle	heart
27	chr11:65747200-65764600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:65747200-65764600	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:65747200-65764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:65747200-65764800	Weak transcription	Pancreas	Pancrea
31	chr11:65747200-65764800	Weak transcription	Small Intestine	intestine
32	chr11:65747400-65763000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65747400-65763800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:65747400-65764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:65747400-65764200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:65747400-65764800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65747400-65764800	Weak transcription	Fetal Lung	lung
38	chr11:65747400-65765200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:65747600-65764200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:65747600-65764600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:65747600-65764800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:65747600-65765000	Weak transcription	Colonic Mucosa	Colon
43	chr11:65747800-65762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:65747800-65764000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:65747800-65764000	Weak transcription	Placenta	Placenta
46	chr11:65747800-65764200	Weak transcription	Gastric	stomach
47	chr11:65747800-65764200	Weak transcription	Right Ventricle	heart
48	chr11:65747800-65764200	Weak transcription	HMEC	breast
49	chr11:65747800-65764600	Weak transcription	Osteobl	bone
50	chr11:65747800-65764800	Weak transcription	H9 Cell Line	embryonic stem cell

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