Variant report

Variant	rs73493909
Chromosome Location	chr11:75625094-75625095
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:75625060-75625128	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PPP1R1AP1	TF binding region
ENSG00000255081	TF binding region

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11820368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822610	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11823080	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825180	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825402	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11827625	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11828568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380074	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380075	0.91[EUR][1000 genomes]
rs1380076	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380077	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134442	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099856	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026790	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050930	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59656978	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60175455	0.84[EUR][1000 genomes]
rs60935802	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61311719	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592616	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104218	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107458	0.94[EUR][1000 genomes]
rs7108765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109235	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109363	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7113365	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114160	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115483	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115657	0.97[EUR][1000 genomes]
rs7117696	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7120267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126845	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs713275	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493942	1.00[EUR][1000 genomes]
rs73493943	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927825	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	0.97[EUR][1000 genomes]
rs7927868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	0.97[EUR][1000 genomes]
rs7931944	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937633	0.94[EUR][1000 genomes]
rs7941207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949033	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951333	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:75587600-75631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:75589600-75635800	Weak transcription	NHEK	skin
6	chr11:75590800-75627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:75603400-75627600	Weak transcription	Spleen	Spleen
8	chr11:75603600-75657000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:75603800-75626400	Weak transcription	K562	blood
10	chr11:75604600-75626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:75604600-75657600	Weak transcription	Fetal Thymus	thymus
12	chr11:75606400-75652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:75611200-75628000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:75611200-75635800	Weak transcription	HSMM	muscle
15	chr11:75611600-75636000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:75613200-75629400	Weak transcription	Fetal Stomach	stomach
17	chr11:75614800-75626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:75614800-75635000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:75614800-75635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:75614800-75636000	Weak transcription	Psoas Muscle	Psoas
21	chr11:75615000-75626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:75615400-75635800	Weak transcription	Brain Substantia Nigra	brain
23	chr11:75615400-75635800	Weak transcription	Hela-S3	cervix
24	chr11:75615600-75629600	Weak transcription	Small Intestine	intestine
25	chr11:75615600-75630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:75615600-75635800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:75618800-75635400	Weak transcription	Left Ventricle	heart
28	chr11:75619400-75630000	Weak transcription	HSMMtube	muscle
29	chr11:75619600-75627400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:75620000-75635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:75620400-75632400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:75620600-75627800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:75620600-75636000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:75621600-75636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:75621800-75627800	Weak transcription	Fetal Intestine Large	intestine
36	chr11:75622000-75627000	Strong transcription	GM12878-XiMat	blood
37	chr11:75622200-75625200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:75622200-75625400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:75622200-75628400	Strong transcription	Primary B cells from cord blood	blood
40	chr11:75622200-75629200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:75622400-75625200	Strong transcription	HUVEC	blood vessel
42	chr11:75622600-75625600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:75622600-75625600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:75622600-75639000	Weak transcription	Lung	lung
45	chr11:75622800-75657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:75623000-75625200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:75623200-75625200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:75623200-75625200	Strong transcription	Liver	Liver
49	chr11:75623200-75625400	Strong transcription	Dnd41	blood
50	chr11:75623400-75625200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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