Variant report

Variant	rs538058
Chromosome Location	chr11:86371963-86371964
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86369970..86372243-chr11:86379916..86381989,2	K562	blood:
2	chr11:86371004..86373857-chr11:86511374..86513130,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10792865	0.95[CHB][hapmap]
rs10792872	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234731	0.81[CHB][hapmap]
rs12274942	0.82[CHB][hapmap]
rs12282010	0.81[CHB][hapmap]
rs12288119	0.81[CHB][hapmap]
rs17757676	0.82[CHB][hapmap]
rs1938921	0.81[CHB][hapmap]
rs1938929	0.82[CHB][hapmap]
rs1938932	0.82[CHB][hapmap]
rs1938935	0.82[CHB][hapmap]
rs4144866	0.82[CHB][hapmap]
rs4245418	0.81[CHB][hapmap]
rs4245419	0.81[CHB][hapmap]
rs4245420	0.82[CHB][hapmap]
rs4245421	0.82[CHB][hapmap]
rs4245422	0.81[CHB][hapmap]
rs4245423	0.81[CHB][hapmap]
rs4245424	0.82[CHB][hapmap]
rs4319536	0.95[CHB][hapmap]
rs4592448	0.95[CHB][hapmap]
rs493010	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944603	0.81[CHB][hapmap]
rs4944607	0.81[CHB][hapmap]
rs4944611	0.82[CHB][hapmap]
rs503155	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs507211	0.83[AMR][1000 genomes]
rs539805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589887	0.95[ASN][1000 genomes]
rs591060	0.93[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597823	0.92[ASN][1000 genomes]
rs601988	0.81[YRI][hapmap]
rs609885	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs622933	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs624183	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs648258	0.94[ASN][1000 genomes]
rs6592301	0.81[CHB][hapmap]
rs6592302	0.81[CHB][hapmap]
rs661954	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs674053	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs679220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688119	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs693817	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7105863	0.81[CHB][hapmap]
rs7115834	0.81[CHB][hapmap]
rs7120444	0.82[CHB][hapmap]
rs7941446	0.82[CHB][hapmap]
rs7951868	0.82[CHB][hapmap]
rs9735826	0.95[ASN][1000 genomes]
rs999472	0.82[CHB][hapmap]

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	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
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:86362000-86378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:86363000-86373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:86366200-86380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:86366600-86379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:86369400-86375600	Weak transcription	Aorta	Aorta
7	chr11:86369600-86372200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:86369600-86372600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:86369600-86372800	Enhancers	Left Ventricle	heart
10	chr11:86369800-86373800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:86369800-86379600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:86369800-86379600	Weak transcription	Lung	lung
13	chr11:86369800-86379800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:86369800-86381200	Weak transcription	Pancreas	Pancrea
15	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:86370000-86375400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:86370000-86382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:86370200-86372400	Enhancers	NHDF-Ad	bronchial
19	chr11:86370400-86372600	Weak transcription	Ovary	ovary
20	chr11:86370400-86379600	Weak transcription	Fetal Brain Female	brain
21	chr11:86370600-86372400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:86370600-86374000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:86370600-86379400	Weak transcription	Fetal Brain Male	brain
24	chr11:86370800-86374800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:86371200-86372800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:86371200-86380800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:86371400-86372200	Weak transcription	Psoas Muscle	Psoas
28	chr11:86371400-86372200	Weak transcription	Right Ventricle	heart
29	chr11:86371400-86373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:86371400-86374200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:86371400-86374200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:86371400-86374800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:86371400-86376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:86371400-86376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:86371400-86378600	Weak transcription	Osteobl	bone
36	chr11:86371400-86379600	Weak transcription	Right Atrium	heart
37	chr11:86371400-86381000	Weak transcription	HUVEC	blood vessel
38	chr11:86371400-86381000	Weak transcription	NHLF	lung
39	chr11:86371400-86381200	Weak transcription	Stomach Mucosa	stomach
40	chr11:86371400-86381400	Weak transcription	HSMM	muscle
41	chr11:86371600-86372000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86371600-86373800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:86371600-86375400	Weak transcription	A549	lung
44	chr11:86371600-86376000	Weak transcription	Fetal Heart	heart
45	chr11:86371600-86376200	Weak transcription	HMEC	breast
46	chr11:86371600-86376400	Weak transcription	NHEK	skin
47	chr11:86371600-86380800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:86371800-86373800	Weak transcription	HSMMtube	muscle
49	chr11:86371800-86378600	Weak transcription	Fetal Lung	lung

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