Variant report

Variant	rs2513215
Chromosome Location	chr11:86750473-86750474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86741218..86743533-chr11:86749277..86751879,2	MCF-7	breast:
2	chr11:86749278..86752197-chr11:86764776..86767404,2	K562	blood:
3	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
4	chr11:86665343..86667808-chr11:86749695..86751582,2	K562	blood:

Variant related genes	Relation type
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466732	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10751146	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792898	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10792899	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12419551	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12790462	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1378879	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1531146	0.85[EUR][1000 genomes]
rs1551503	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1963952	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968740	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1968742	0.85[EUR][1000 genomes]
rs2001411	0.87[EUR][1000 genomes]
rs2034848	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077594	0.87[EUR][1000 genomes]
rs2445535	0.88[EUR][1000 genomes]
rs2445575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445580	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445586	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2445589	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512330	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512332	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512356	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512357	0.87[EUR][1000 genomes]
rs2512358	0.85[EUR][1000 genomes]
rs2512365	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512389	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512395	0.85[EUR][1000 genomes]
rs2512396	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512397	0.83[EUR][1000 genomes]
rs2512485	0.88[EUR][1000 genomes]
rs2512499	0.88[EUR][1000 genomes]
rs2513210	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513212	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513214	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513216	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513218	0.88[EUR][1000 genomes]
rs2513224	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513228	0.88[EUR][1000 genomes]
rs2513233	0.88[EUR][1000 genomes]
rs2513239	0.85[EUR][1000 genomes]
rs2513240	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133317	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133319	0.83[EUR][1000 genomes]
rs3133361	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4245428	0.82[AMR][1000 genomes]
rs4245430	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4943971	0.88[EUR][1000 genomes]
rs4944662	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7927570	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943307	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7943346	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7943831	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7949018	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs991773	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86748000-86750600	Active TSS	Brain Cingulate Gyrus	brain
2	chr11:86748000-86750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:86748200-86750800	Active TSS	Psoas Muscle	Psoas
5	chr11:86748200-86751000	Active TSS	Ovary	ovary
6	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86748400-86750600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86748400-86750600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:86748400-86750600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:86748400-86751200	Active TSS	Aorta	Aorta
12	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:86748600-86750600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:86748600-86750800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:86748600-86751000	Active TSS	NHLF	lung
17	chr11:86749000-86751000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86749200-86751400	Active TSS	Right Atrium	heart
19	chr11:86749400-86752200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr11:86749600-86750600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:86749600-86750600	Flanking Active TSS	Liver	Liver
22	chr11:86749600-86750600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:86749600-86750600	Enhancers	Small Intestine	intestine
24	chr11:86749600-86750600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr11:86749600-86750800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:86749600-86750800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:86749600-86750800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:86749600-86750800	Flanking Active TSS	Fetal Brain Female	brain
29	chr11:86749600-86750800	Flanking Active TSS	HUVEC	blood vessel
30	chr11:86749600-86751000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:86749600-86751200	Active TSS	HepG2	liver
32	chr11:86749600-86751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:86749800-86750600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:86749800-86750600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:86749800-86750800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:86749800-86750800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:86749800-86750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:86749800-86750800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:86749800-86750800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:86749800-86750800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr11:86749800-86750800	Flanking Active TSS	Hela-S3	cervix
45	chr11:86749800-86751000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:86749800-86751200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:86749800-86751400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:86749800-86751400	Flanking Active TSS	Dnd41	blood
49	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:86750000-86750600	Enhancers	Primary hematopoietic stem cells	blood

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