Variant report

Variant	rs2511269
Chromosome Location	chr11:73524498-73524499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73519473..73521697-chr11:73523266..73525427,2	K562	blood:
2	chr11:73497192..73500177-chr11:73523575..73525641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11235903	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1525750	0.92[EUR][1000 genomes]
rs1525751	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1670538	0.83[AFR][1000 genomes]
rs1670548	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1670571	0.83[AFR][1000 genomes]
rs1723834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723838	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1723839	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723842	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723844	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723845	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723846	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723849	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1792157	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1792164	0.81[AFR][1000 genomes]
rs1792185	0.83[AFR][1000 genomes]
rs1792195	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1792196	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1880642	0.85[EUR][1000 genomes]
rs1880643	0.85[EUR][1000 genomes]
rs1976914	1.00[EUR][1000 genomes]
rs2037709	0.85[EUR][1000 genomes]
rs2056649	0.89[EUR][1000 genomes]
rs2366944	0.85[EUR][1000 genomes]
rs2462617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511263	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2511265	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4548648	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944026	0.85[EUR][1000 genomes]
rs4944027	0.85[EUR][1000 genomes]
rs4944030	0.85[EUR][1000 genomes]
rs4944857	0.85[EUR][1000 genomes]
rs4944859	0.89[EUR][1000 genomes]
rs4944860	0.89[EUR][1000 genomes]
rs4944864	0.83[EUR][1000 genomes]
rs4944865	0.83[EUR][1000 genomes]
rs6592529	0.85[EUR][1000 genomes]
rs7396121	0.85[EUR][1000 genomes]
rs7480464	0.83[AFR][1000 genomes]
rs7942515	0.85[EUR][1000 genomes]
rs940831	0.85[EUR][1000 genomes]
rs9634024	0.89[EUR][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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
4	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
9	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
12	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
13	chr11:73500600-73528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:73500600-73549200	Weak transcription	Osteobl	bone
16	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
17	chr11:73500800-73558800	Weak transcription	NHEK	skin
18	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
19	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
20	chr11:73508200-73529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
22	chr11:73508800-73533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
24	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
26	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
28	chr11:73508800-73575400	Weak transcription	Gastric	stomach
29	chr11:73509000-73526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:73509000-73528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73509000-73529200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:73509000-73530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:73509000-73536800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:73509000-73539400	Weak transcription	Ovary	ovary
35	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
37	chr11:73509000-73553200	Weak transcription	Lung	lung
38	chr11:73509200-73538400	Weak transcription	Brain Anterior Caudate	brain
39	chr11:73509600-73529600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:73509600-73538200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:73511800-73529400	Weak transcription	Fetal Heart	heart
43	chr11:73511800-73529600	Weak transcription	Left Ventricle	heart
44	chr11:73516000-73553200	Weak transcription	HepG2	liver
45	chr11:73516200-73529800	Weak transcription	NH-A	brain
46	chr11:73516200-73532200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:73517400-73538200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:73517600-73533400	Weak transcription	Duodenum Mucosa	Duodenum

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