Variant report

Variant	rs3133361
Chromosome Location	chr11:86749775-86749776
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	0.89[EUR][1000 genomes]
rs10751146	0.88[EUR][1000 genomes]
rs10792898	0.88[EUR][1000 genomes]
rs10792899	0.86[EUR][1000 genomes]
rs12419551	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12790462	0.88[EUR][1000 genomes]
rs1378879	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1531146	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1531147	0.87[AMR][1000 genomes]
rs1551503	0.82[EUR][1000 genomes]
rs1963952	0.80[EUR][1000 genomes]
rs1968740	0.83[EUR][1000 genomes]
rs1968742	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2001411	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2034848	0.82[EUR][1000 genomes]
rs2077594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2445535	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445575	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2445580	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2445586	0.86[EUR][1000 genomes]
rs2445589	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2512330	0.86[EUR][1000 genomes]
rs2512332	0.86[EUR][1000 genomes]
rs2512356	0.86[EUR][1000 genomes]
rs2512357	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512358	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512365	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2512367	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2512389	0.83[EUR][1000 genomes]
rs2512395	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512396	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2512397	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512485	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512499	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513210	0.81[EUR][1000 genomes]
rs2513212	0.86[EUR][1000 genomes]
rs2513214	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2513215	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2513216	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2513218	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513224	0.83[EUR][1000 genomes]
rs2513228	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513233	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513239	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513240	0.83[EUR][1000 genomes]
rs3133317	0.86[EUR][1000 genomes]
rs3133319	0.83[EUR][1000 genomes]
rs4245430	0.80[EUR][1000 genomes]
rs4943971	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944662	0.88[EUR][1000 genomes]
rs7927570	0.89[EUR][1000 genomes]
rs7943307	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7943346	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7943831	0.89[EUR][1000 genomes]
rs7949018	0.85[EUR][1000 genomes]
rs991773	0.82[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86748000-86749800	Active TSS	Fetal Intestine Large	intestine
2	chr11:86748000-86750000	Active TSS	Colonic Mucosa	Colon
3	chr11:86748000-86750200	Active TSS	Fetal Kidney	kidney
4	chr11:86748000-86750400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:86748000-86750400	Active TSS	Fetal Intestine Small	intestine
6	chr11:86748000-86750600	Active TSS	Brain Cingulate Gyrus	brain
7	chr11:86748000-86750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:86748200-86749800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr11:86748200-86749800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:86748200-86749800	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:86748200-86749800	Active TSS	Gastric	stomach
13	chr11:86748200-86749800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:86748200-86750000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:86748200-86750000	Active TSS	A549	lung
16	chr11:86748200-86750200	Active TSS	HSMMtube	muscle
17	chr11:86748200-86750400	Active TSS	Left Ventricle	heart
18	chr11:86748200-86750800	Active TSS	Psoas Muscle	Psoas
19	chr11:86748200-86751000	Active TSS	Ovary	ovary
20	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:86748400-86749800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:86748400-86749800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:86748400-86749800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:86748400-86749800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86748400-86750000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:86748400-86750200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:86748400-86750200	Active TSS	Colon Smooth Muscle	Colon
28	chr11:86748400-86750200	Active TSS	HSMM	muscle
29	chr11:86748400-86750600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:86748400-86750600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:86748400-86750600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:86748400-86751200	Active TSS	Aorta	Aorta
34	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:86748600-86749800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:86748600-86749800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:86748600-86749800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:86748600-86749800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:86748600-86749800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:86748600-86749800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:86748600-86749800	Active TSS	Brain Angular Gyrus	brain
43	chr11:86748600-86749800	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:86748600-86749800	Active TSS	Lung	lung
45	chr11:86748600-86749800	Active TSS	Pancreas	Pancrea
46	chr11:86748600-86749800	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:86748600-86749800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:86748600-86749800	Active TSS	Hela-S3	cervix
49	chr11:86748600-86749800	Active TSS	NH-A	brain
50	chr11:86748600-86750000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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