Variant report

Variant	rs12575285
Chromosome Location	chr11:86345027-86345028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86336049..86341479-chr11:86341893..86346875,7	MCF-7	breast:
2	chr11:86343699..86345284-chr11:86380600..86383529,2	MCF-7	breast:
3	chr11:86343672..86346376-chr11:86522786..86524329,2	MCF-7	breast:
4	chr11:86342318..86349364-chr11:86509780..86514935,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10501626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10898526	0.90[CHB][hapmap]
rs11234743	0.93[CHB][hapmap]
rs11234744	0.92[CHB][hapmap]
rs11234745	0.93[CHB][hapmap]
rs12285344	0.85[ASN][1000 genomes]
rs12573953	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575580	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17211458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17211563	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17211584	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17818784	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818845	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17819523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17819683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1945142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2226566	0.98[ASN][1000 genomes]
rs2433413	0.93[CHB][hapmap]
rs2433415	0.93[CHB][hapmap]
rs471780	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs539214	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56095595	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56140354	0.98[ASN][1000 genomes]
rs56935647	0.97[ASN][1000 genomes]
rs581796	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs600242	0.93[CHB][hapmap]
rs60229086	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602498	0.93[CHB][hapmap]
rs60379752	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623785	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659301	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66878934	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66909667	0.98[ASN][1000 genomes]
rs67112634	0.98[ASN][1000 genomes]
rs672266	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs67655324	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs686768	0.90[ASN][1000 genomes]
rs687138	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72955481	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72957414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957420	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957437	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957439	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957441	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957457	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957470	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957473	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957476	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959410	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959413	0.90[ASN][1000 genomes]
rs72959421	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72959427	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959431	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72961766	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs746491	0.93[CHB][hapmap]
rs7480835	0.98[ASN][1000 genomes]
rs9667489	0.86[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	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv520466	chr11:86344677-86346940	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86331000-86346200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86333200-86349800	Weak transcription	Esophagus	oesophagus
3	chr11:86335600-86345200	Enhancers	NHDF-Ad	bronchial
4	chr11:86336000-86348000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:86339200-86349200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
7	chr11:86341000-86347400	Weak transcription	Fetal Kidney	kidney
8	chr11:86341000-86349000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:86341000-86355400	Weak transcription	Adipose Nuclei	Adipose
10	chr11:86341600-86358800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86342000-86349200	Weak transcription	Fetal Heart	heart
12	chr11:86342200-86348400	Weak transcription	Left Ventricle	heart
13	chr11:86342200-86348400	Weak transcription	Right Ventricle	heart
14	chr11:86342200-86348800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:86342200-86351400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:86342200-86353200	Weak transcription	Aorta	Aorta
17	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
18	chr11:86342600-86347400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:86343200-86345200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:86343200-86345200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:86343200-86345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:86343200-86345400	Enhancers	HSMM	muscle
23	chr11:86343800-86345400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86343800-86350000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:86344000-86345400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:86344200-86346000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86344200-86346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:86344200-86352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:86344400-86345600	Enhancers	A549	lung
31	chr11:86344400-86347000	Weak transcription	Ovary	ovary
32	chr11:86344400-86348400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:86344400-86349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:86344600-86347000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:86344600-86347000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:86344600-86354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:86344800-86346600	Weak transcription	NH-A	brain
38	chr11:86344800-86346800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:86344800-86346800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86344800-86347000	Weak transcription	NHLF	lung
41	chr11:86344800-86347400	Weak transcription	HMEC	breast
42	chr11:86344800-86348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:86344800-86349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:86344800-86349000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:86344800-86349000	Weak transcription	NHEK	skin
46	chr11:86344800-86349000	Weak transcription	Osteobl	bone
47	chr11:86344800-86355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:86344800-86355800	Weak transcription	Pancreas	Pancrea
49	chr11:86345000-86345400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:86345000-86346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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