Variant report

Variant	rs566480
Chromosome Location	chr11:74725865-74725866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74697161..74701589-chr11:74722600..74726344,4	K562	blood:
2	chr11:74723507..74725888-chr11:74813976..74816359,2	K562	blood:
3	chr11:74725568..74728361-chr11:74730920..74733863,2	MCF-7	breast:
4	chr11:74714625..74716213-chr11:74725401..74727829,2	K562	blood:
5	chr11:74720292..74723058-chr11:74725364..74728769,4	K562	blood:

Variant related genes	Relation type
ENSG00000162139	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11236291	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236292	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018833	0.89[ASN][1000 genomes]
rs494474	0.96[ASN][1000 genomes]
rs522808	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536412	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs544115	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551371	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs565377	0.96[ASN][1000 genomes]
rs568310	0.91[ASN][1000 genomes]
rs58778107	0.96[ASN][1000 genomes]
rs58972415	0.85[ASN][1000 genomes]
rs59860682	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639768	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671544	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs674122	0.93[ASN][1000 genomes]
rs681566	0.90[ASN][1000 genomes]
rs685116	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128833	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939123	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952209	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74712000-74728200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:74717600-74726000	Weak transcription	Esophagus	oesophagus
3	chr11:74718000-74733800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:74718000-74734200	Weak transcription	Right Ventricle	heart
5	chr11:74718200-74726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:74718200-74726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:74718200-74729200	Weak transcription	Gastric	stomach
8	chr11:74718400-74726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:74718400-74729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:74718800-74726600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:74719400-74728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:74721000-74726200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:74721600-74726200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:74721600-74733400	Weak transcription	Pancreas	Pancrea
15	chr11:74721600-74734200	Weak transcription	Brain Angular Gyrus	brain
16	chr11:74721600-74734200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:74721600-74734200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:74721600-74734200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:74721600-74734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:74721800-74726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:74721800-74728400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:74721800-74729400	Weak transcription	Fetal Intestine Small	intestine
23	chr11:74722800-74730200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:74723400-74730200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:74723600-74729400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:74723600-74731800	Weak transcription	Left Ventricle	heart
27	chr11:74723800-74726200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:74723800-74729200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:74723800-74733800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:74724000-74726200	Weak transcription	GM12878-XiMat	blood
31	chr11:74724000-74726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:74724000-74727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:74724000-74727400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:74724000-74734200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:74724200-74730400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:74724400-74727400	Enhancers	Fetal Muscle Leg	muscle
37	chr11:74724400-74730200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:74724600-74730800	Weak transcription	Fetal Stomach	stomach
39	chr11:74724600-74735400	Weak transcription	Aorta	Aorta
40	chr11:74724800-74727000	Weak transcription	Fetal Thymus	thymus
41	chr11:74725000-74728200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:74725000-74730200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:74725200-74726000	Enhancers	Fetal Heart	heart
44	chr11:74725200-74726200	Weak transcription	Psoas Muscle	Psoas
45	chr11:74725200-74727600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:74725200-74728000	Weak transcription	Spleen	Spleen
47	chr11:74725400-74727200	Weak transcription	Dnd41	blood
48	chr11:74725400-74729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:74725400-74731000	Weak transcription	Liver	Liver
50	chr11:74725600-74727200	Weak transcription	Primary T cells from cord blood	blood

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