Variant report

Variant	rs59147439
Chromosome Location	chr11:75583721-75583722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75577933..75580535-chr11:75581505..75587354,5	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11820368	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11822610	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825402	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828568	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380074	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380075	0.97[EUR][1000 genomes]
rs1380076	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380077	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134442	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134447	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134448	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134477	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1995893	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099856	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371719	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5026790	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56366270	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58050930	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59656978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60935802	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61311719	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104218	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107458	1.00[EUR][1000 genomes]
rs7108765	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109235	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109363	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113365	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114160	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115657	0.91[EUR][1000 genomes]
rs7117696	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120267	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126845	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713275	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493909	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493938	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493942	0.94[EUR][1000 genomes]
rs73493943	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493944	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493952	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7927825	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	0.91[EUR][1000 genomes]
rs7927868	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	0.91[EUR][1000 genomes]
rs7931944	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937633	1.00[EUR][1000 genomes]
rs7941207	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949033	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951333	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:75544000-75584000	Weak transcription	Small Intestine	intestine
3	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:75553800-75600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:75557400-75586800	Weak transcription	Ovary	ovary
7	chr11:75558400-75602800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:75561200-75584200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:75561200-75584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:75561200-75584800	Weak transcription	Lung	lung
11	chr11:75562000-75586400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:75562200-75585800	Weak transcription	Fetal Brain Male	brain
13	chr11:75562200-75590800	Weak transcription	Thymus	Thymus
14	chr11:75562600-75584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:75562600-75591400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:75562800-75610800	Weak transcription	HSMMtube	muscle
18	chr11:75564200-75584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:75565400-75591400	Weak transcription	Fetal Stomach	stomach
20	chr11:75565400-75592000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:75565800-75591400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:75566400-75587400	Weak transcription	HepG2	liver
23	chr11:75566600-75584400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:75568000-75591200	Weak transcription	Placenta	Placenta
25	chr11:75570000-75610600	Weak transcription	NHDF-Ad	bronchial
26	chr11:75570200-75600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:75570200-75610400	Weak transcription	Osteobl	bone
28	chr11:75571800-75603200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:75572600-75591200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:75572600-75603200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:75574000-75590400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:75574200-75587200	Weak transcription	Dnd41	blood
33	chr11:75574200-75590400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:75574200-75603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:75574800-75584000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:75574800-75590200	Weak transcription	Primary T cells from cord blood	blood
37	chr11:75576000-75603000	Weak transcription	Hela-S3	cervix
38	chr11:75577600-75583800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:75578000-75584800	Enhancers	Brain Hippocampus Middle	brain
40	chr11:75578600-75583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:75578600-75583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:75579200-75586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:75579200-75610000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:75579600-75584000	Weak transcription	Gastric	stomach
45	chr11:75579600-75586800	Weak transcription	Left Ventricle	heart
46	chr11:75579800-75584600	Weak transcription	Stomach Mucosa	stomach
47	chr11:75580200-75583800	Weak transcription	Primary B cells from cord blood	blood
48	chr11:75580200-75583800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:75580200-75584400	Weak transcription	Fetal Thymus	thymus
50	chr11:75580200-75584800	Weak transcription	Adipose Nuclei	Adipose

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