Variant report

Variant	rs72928884
Chromosome Location	chr11:65754124-65754125
allele	C/T
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	FOS	chr11:65753993-65754196	HUVEC	blood vessel:	n/a	chr11:65754033-65754042 chr11:65754033-65754043 chr11:65754033-65754043 chr11:65754033-65754043 chr11:65754032-65754043 chr11:65754033-65754043

No.	Distal block	Cell Line	Cell type
1	chr11:65748971..65751711-chr11:65753377..65755167,2	MCF-7	breast:
2	chr11:65656308..65659356-chr11:65753544..65758296,4	MCF-7	breast:
3	chr11:65748830..65750592-chr11:65753511..65756677,3	MCF-7	breast:
4	chr11:65727996..65732131-chr11:65753482..65756535,4	MCF-7	breast:
5	chr11:65656283..65659503-chr11:65753735..65758197,4	MCF-7	breast:
6	chr11:65750202..65753113-chr11:65753459..65757175,5	K562	blood:
7	chr11:65666508..65668116-chr11:65753771..65755618,2	MCF-7	breast:
8	chr11:65752788..65755729-chr11:65758294..65759811,2	K562	blood:
9	chr11:65742158..65748813-chr11:65749011..65756801,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254867	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000254867	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175592	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11545221	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575004	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575514	0.93[ASN][1000 genomes]
rs12575735	0.94[ASN][1000 genomes]
rs12576095	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12576287	1.00[ASN][1000 genomes]
rs12577165	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12577625	0.93[ASN][1000 genomes]
rs2276015	0.93[ASN][1000 genomes]
rs2276017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2277305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28372938	0.93[ASN][1000 genomes]
rs3825068	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57968007	0.92[ASN][1000 genomes]
rs58905199	0.93[ASN][1000 genomes]
rs59156593	0.90[EUR][1000 genomes]
rs61515492	0.87[ASN][1000 genomes]
rs67232706	0.90[ASN][1000 genomes]
rs67530871	0.90[ASN][1000 genomes]
rs72928826	0.90[EUR][1000 genomes]
rs72928828	0.93[ASN][1000 genomes]
rs72928830	0.93[ASN][1000 genomes]
rs72928831	0.85[ASN][1000 genomes]
rs72928860	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72928879	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72928892	0.85[EUR][1000 genomes]
rs72928895	0.85[EUR][1000 genomes]
rs72928898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.99[ASN][1000 genomes]
rs72930933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930958	0.85[EUR][1000 genomes]
rs72930964	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930967	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930974	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72930976	0.85[EUR][1000 genomes]
rs72930978	0.85[EUR][1000 genomes]
rs72930984	0.85[EUR][1000 genomes]
rs72930985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9943575	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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:116 , 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	chr11:65735800-65756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
4	chr11:65737800-65756600	Weak transcription	Stomach Mucosa	stomach
5	chr11:65739600-65756400	Weak transcription	Fetal Kidney	kidney
6	chr11:65739800-65756400	Weak transcription	Hela-S3	cervix
7	chr11:65741200-65765000	Weak transcription	NHDF-Ad	bronchial
8	chr11:65741400-65762000	Weak transcription	HSMMtube	muscle
9	chr11:65741600-65762000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:65742200-65759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65743800-65764800	Weak transcription	HSMM	muscle
12	chr11:65745000-65764200	Weak transcription	HUVEC	blood vessel
13	chr11:65745200-65764800	Weak transcription	K562	blood
14	chr11:65745400-65764800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:65745400-65765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:65745600-65764200	Weak transcription	NH-A	brain
17	chr11:65745800-65756600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:65745800-65764800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:65746000-65764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:65746800-65756400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:65746800-65765000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:65747000-65756400	Weak transcription	Primary B cells from cord blood	blood
23	chr11:65747000-65756400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:65747000-65756400	Weak transcription	Aorta	Aorta
25	chr11:65747000-65756400	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:65747000-65764200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:65747000-65764600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:65747000-65764600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:65747000-65764600	Weak transcription	Ovary	ovary
30	chr11:65747000-65764800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:65747200-65755600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:65747200-65756200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:65747200-65756400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:65747200-65756400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:65747200-65756400	Weak transcription	GM12878-XiMat	blood
36	chr11:65747200-65756600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:65747200-65757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:65747200-65759800	Weak transcription	Lung	lung
39	chr11:65747200-65764200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:65747200-65764200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:65747200-65764200	Weak transcription	Liver	Liver
42	chr11:65747200-65764200	Weak transcription	A549	lung
43	chr11:65747200-65764400	Weak transcription	Left Ventricle	heart
44	chr11:65747200-65764600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:65747200-65764600	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:65747200-65764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:65747200-65764800	Weak transcription	Pancreas	Pancrea
48	chr11:65747200-65764800	Weak transcription	Small Intestine	intestine
49	chr11:65747400-65756400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:65747400-65756400	Weak transcription	Duodenum Mucosa	Duodenum

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