Variant report

Variant	rs72969425
Chromosome Location	chr11:86514692-86514693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86168596..86172615-chr11:86512849..86516301,3	MCF-7	breast:
2	chr11:86345451..86347957-chr11:86512981..86515684,2	MCF-7	breast:
3	chr11:86194046..86196274-chr11:86514380..86517149,2	MCF-7	breast:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
5	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
6	chr11:86509457..86512204-chr11:86513556..86515682,3	K562	blood:
7	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10501629	1.00[ASN][1000 genomes]
rs11234769	1.00[ASN][1000 genomes]
rs11234776	1.00[ASN][1000 genomes]
rs11234777	1.00[ASN][1000 genomes]
rs11234778	1.00[ASN][1000 genomes]
rs11234785	1.00[ASN][1000 genomes]
rs11234798	1.00[ASN][1000 genomes]
rs11234799	1.00[ASN][1000 genomes]
rs11234800	1.00[ASN][1000 genomes]
rs11234818	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602353	1.00[ASN][1000 genomes]
rs11604205	1.00[ASN][1000 genomes]
rs11605575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11608167	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362740	1.00[ASN][1000 genomes]
rs12791451	1.00[ASN][1000 genomes]
rs12798749	1.00[ASN][1000 genomes]
rs12807796	1.00[ASN][1000 genomes]
rs17159941	1.00[ASN][1000 genomes]
rs17758195	1.00[ASN][1000 genomes]
rs17758206	1.00[ASN][1000 genomes]
rs17758334	1.00[ASN][1000 genomes]
rs17758376	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758400	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820139	1.00[ASN][1000 genomes]
rs1815753	1.00[ASN][1000 genomes]
rs2011913	1.00[ASN][1000 genomes]
rs34963582	1.00[ASN][1000 genomes]
rs35666652	1.00[ASN][1000 genomes]
rs35781069	1.00[ASN][1000 genomes]
rs4307742	1.00[ASN][1000 genomes]
rs57857339	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399373	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66672297	1.00[ASN][1000 genomes]
rs66827623	1.00[ASN][1000 genomes]
rs67313042	1.00[ASN][1000 genomes]
rs67588995	1.00[ASN][1000 genomes]
rs67761566	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67939314	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128805	1.00[ASN][1000 genomes]
rs71465659	1.00[ASN][1000 genomes]
rs72967468	1.00[ASN][1000 genomes]
rs72967500	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969403	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969405	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969407	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969411	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969422	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969477	1.00[ASN][1000 genomes]
rs7934478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86511000-86514800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
3	chr11:86512200-86515000	Enhancers	Fetal Brain Male	brain
4	chr11:86512400-86514800	Flanking Active TSS	Osteobl	bone
5	chr11:86512400-86515600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:86512400-86515800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86512600-86515000	Flanking Active TSS	HMEC	breast
8	chr11:86512600-86515400	Flanking Active TSS	HUVEC	blood vessel
9	chr11:86512600-86518600	Weak transcription	Small Intestine	intestine
10	chr11:86512600-86520600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:86512800-86514800	Flanking Active TSS	NHEK	skin
12	chr11:86512800-86516000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:86512800-86516200	Weak transcription	Fetal Heart	heart
14	chr11:86512800-86516800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:86512800-86517400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:86512800-86518400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
18	chr11:86513200-86519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:86513400-86515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:86513400-86517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:86513400-86520400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:86513600-86515600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:86513600-86515800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:86513600-86517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86513600-86518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:86513600-86518600	Weak transcription	Lung	lung
27	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
28	chr11:86513800-86515000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:86513800-86515200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:86513800-86515600	Weak transcription	HSMMtube	muscle
31	chr11:86513800-86515800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:86513800-86516200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:86514000-86516000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:86514000-86516000	Weak transcription	Ovary	ovary
37	chr11:86514000-86516000	Weak transcription	Right Atrium	heart
38	chr11:86514000-86516200	Weak transcription	Fetal Stomach	stomach
39	chr11:86514000-86516400	Weak transcription	Stomach Mucosa	stomach
40	chr11:86514000-86516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:86514000-86517200	Enhancers	NHLF	lung
42	chr11:86514000-86518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:86514000-86518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:86514000-86523200	Weak transcription	Psoas Muscle	Psoas
45	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:86514200-86515000	Enhancers	Aorta	Aorta
48	chr11:86514200-86515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:86514200-86515200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:86514200-86516000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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