Variant report

Variant	rs58050930
Chromosome Location	chr11:75619710-75619711
allele	A/G
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	NFATC1	chr11:75619634-75620052	GM12878	blood:	n/a	n/a
2	JUND	chr11:75619110-75620653	GM12878	blood:	n/a	n/a
3	FOS	chr11:75619099-75619797	HUVEC	blood vessel:	n/a	n/a
4	IRF4	chr11:75619597-75620045	GM12878	blood:	n/a	n/a
5	NFIC	chr11:75619522-75620080	GM12878	blood:	n/a	n/a
6	ATF2	chr11:75619524-75620170	GM12878	blood:	n/a	n/a
7	IRF4	chr11:75619621-75620129	GM12878	blood:	n/a	n/a
8	ATF2	chr11:75619674-75620057	GM12878	blood:	n/a	n/a
9	EP300	chr11:75619705-75620042	GM12878	blood:	n/a	n/a
10	CREB1	chr11:75619614-75620126	GM12878	blood:	n/a	n/a
11	BATF	chr11:75619655-75620120	GM12878	blood:	n/a	chr11:75619903-75619914 chr11:75619858-75619869 chr11:75619889-75619900
12	RCOR1	chr11:75619704-75620013	GM12878	blood:	n/a	n/a
13	BATF	chr11:75619654-75620057	GM12878	blood:	n/a	chr11:75619903-75619914 chr11:75619858-75619869 chr11:75619889-75619900
14	RUNX3	chr11:75619580-75620144	GM12878	blood:	n/a	n/a
15	MEF2A	chr11:75619536-75620086	GM12878	blood:	n/a	n/a
16	FOXM1	chr11:75619619-75620100	GM12878	blood:	n/a	n/a
17	EBF1	chr11:75619709-75619983	GM12878	blood:	n/a	n/a
18	JUND	chr11:75619674-75620069	GM12878	blood:	n/a	n/a
19	CUX1	chr11:75619524-75619975	GM12878	blood:	n/a	n/a
20	RUNX3	chr11:75619681-75619980	GM12878	blood:	n/a	n/a
21	ZNF384	chr11:75619094-75620109	GM12878	blood:	n/a	n/a
22	NFIC	chr11:75619397-75620190	GM12878	blood:	n/a	n/a
23	MTA3	chr11:75619608-75620103	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UVRAG	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];0.94[ASN][1000 genomes]
rs11822610	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11823080	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11825180	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11825402	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11827625	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11828568	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1380074	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1380075	0.91[EUR][1000 genomes]
rs1380076	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1380077	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134444	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134447	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134448	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134477	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1995893	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099856	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2371719	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5026790	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56366270	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59656978	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60175455	0.84[EUR][1000 genomes]
rs60935802	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61311719	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592616	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104218	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107458	0.94[EUR][1000 genomes]
rs7108765	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109235	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109363	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113365	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7114160	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115483	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115657	0.97[EUR][1000 genomes]
rs7117696	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120267	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126845	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713275	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73493909	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73493938	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73493942	1.00[EUR][1000 genomes]
rs73493943	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73493944	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73493952	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927853	0.97[EUR][1000 genomes]
rs7927868	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931418	0.97[EUR][1000 genomes]
rs7931944	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7937633	0.94[EUR][1000 genomes]
rs7941207	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949033	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951333	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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:62 , 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	chr11:75584600-75624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:75585000-75628400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:75587400-75621600	Weak transcription	Ovary	ovary
6	chr11:75587600-75631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:75589600-75635800	Weak transcription	NHEK	skin
8	chr11:75590800-75627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:75603400-75627600	Weak transcription	Spleen	Spleen
10	chr11:75603600-75657000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:75603800-75623400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:75603800-75623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:75603800-75626400	Weak transcription	K562	blood
14	chr11:75604000-75622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:75604000-75623200	Weak transcription	Dnd41	blood
16	chr11:75604200-75624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:75604400-75622200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:75604400-75623400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:75604400-75623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:75604600-75621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:75604600-75626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:75604600-75657600	Weak transcription	Fetal Thymus	thymus
23	chr11:75605000-75623200	Weak transcription	Liver	Liver
24	chr11:75605200-75624200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:75606400-75622600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:75606400-75652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:75610800-75622600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:75611200-75628000	Weak transcription	Fetal Intestine Small	intestine
29	chr11:75611200-75635800	Weak transcription	HSMM	muscle
30	chr11:75611600-75636000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:75612000-75623400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:75613200-75623200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:75613200-75629400	Weak transcription	Fetal Stomach	stomach
34	chr11:75614600-75620000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:75614600-75623200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:75614600-75624000	Weak transcription	Fetal Brain Female	brain
37	chr11:75614800-75623000	Weak transcription	Primary T cells from cord blood	blood
38	chr11:75614800-75626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:75614800-75635000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:75614800-75635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:75614800-75636000	Weak transcription	Psoas Muscle	Psoas
42	chr11:75615000-75626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:75615400-75623200	Weak transcription	NHDF-Ad	bronchial
44	chr11:75615400-75623600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:75615400-75635800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:75615400-75635800	Weak transcription	Hela-S3	cervix
47	chr11:75615600-75629600	Weak transcription	Small Intestine	intestine
48	chr11:75615600-75630000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:75615600-75635800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:75615800-75624000	Weak transcription	Fetal Lung	lung

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