Variant report

Variant	rs59227416
Chromosome Location	chr11:86390788-86390789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86387888..86391324-chr11:86509272..86511991,3	MCF-7	breast:
2	chr11:86386984..86389152-chr11:86390570..86392584,2	K562	blood:
3	chr11:86390068..86392498-chr11:86447333..86449140,2	MCF-7	breast:
4	chr11:86377391..86379376-chr11:86389767..86391920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10501624	0.83[EUR][1000 genomes]
rs10501625	0.83[EUR][1000 genomes]
rs12099044	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149180	1.00[ASN][1000 genomes]
rs17149223	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17149226	0.83[EUR][1000 genomes]
rs17149234	0.83[EUR][1000 genomes]
rs17149238	0.83[EUR][1000 genomes]
rs17149242	0.83[EUR][1000 genomes]
rs17149245	0.83[EUR][1000 genomes]
rs17149305	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17149308	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17149311	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17149319	0.92[EUR][1000 genomes]
rs17149320	0.92[EUR][1000 genomes]
rs17149325	0.92[EUR][1000 genomes]
rs17149326	0.92[EUR][1000 genomes]
rs1945141	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156532	1.00[ASN][1000 genomes]
rs4614483	1.00[ASN][1000 genomes]
rs55642252	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763915	0.83[EUR][1000 genomes]
rs55894714	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55960749	0.81[EUR][1000 genomes]
rs56048600	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56056120	0.83[EUR][1000 genomes]
rs56272084	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56304616	0.83[EUR][1000 genomes]
rs58173252	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58968600	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339534	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59415795	1.00[ASN][1000 genomes]
rs61182121	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61230561	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61248687	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61372386	1.00[ASN][1000 genomes]
rs7103556	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103642	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961775	1.00[ASN][1000 genomes]
rs73514376	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526075	0.83[EUR][1000 genomes]
rs73526086	0.83[EUR][1000 genomes]
rs73528019	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940187	0.83[EUR][1000 genomes]
rs7940523	0.83[EUR][1000 genomes]
rs7941124	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
2	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
4	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
5	chr11:86384400-86392600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:86384800-86393200	Weak transcription	Pancreas	Pancrea
7	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:86384800-86400400	Weak transcription	Gastric	stomach
9	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:86385600-86391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:86386400-86391600	Weak transcription	Stomach Mucosa	stomach
12	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:86387000-86390800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:86387000-86390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:86387000-86392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:86387600-86391400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:86388000-86391400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:86388000-86392000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:86388400-86391200	Weak transcription	Psoas Muscle	Psoas
21	chr11:86388600-86391400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86389600-86391400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:86389600-86391800	Weak transcription	Right Atrium	heart
24	chr11:86389600-86397800	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:86389800-86390800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:86389800-86393200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:86389800-86399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86390000-86391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:86390000-86403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:86390200-86391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:86390200-86391200	Weak transcription	Fetal Heart	heart
32	chr11:86390200-86391400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86390200-86391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:86390200-86391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:86390200-86391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:86390200-86391400	Weak transcription	Left Ventricle	heart
37	chr11:86390200-86391400	Weak transcription	Ovary	ovary
38	chr11:86390200-86391600	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:86390200-86391800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:86390200-86398600	Weak transcription	Osteobl	bone
41	chr11:86390200-86399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:86390400-86391400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:86390400-86391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:86390400-86391600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86390400-86398000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:86390400-86399800	Weak transcription	Fetal Kidney	kidney
47	chr11:86390600-86391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:86390600-86391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:86390600-86397800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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