Variant report

Variant	rs73493979
Chromosome Location	chr11:75693733-75693734
allele	C/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	MAX	chr11:75693409-75693779	K562	blood:	n/a	n/a
2	RUNX3	chr11:75693332-75693825	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
UVRAG	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11821272	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822333	0.91[EUR][1000 genomes]
rs11825529	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11826581	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11827501	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470235	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1521529	0.91[EUR][1000 genomes]
rs1521530	0.91[EUR][1000 genomes]
rs17134493	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134510	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134532	0.91[EUR][1000 genomes]
rs17134568	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134571	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134573	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134575	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134576	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17134579	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17810401	0.83[ASN][1000 genomes]
rs2139934	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2165673	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071239	0.80[AMR][1000 genomes]
rs56117351	1.00[EUR][1000 genomes]
rs56154425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272311	0.91[EUR][1000 genomes]
rs56803972	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57092805	0.91[EUR][1000 genomes]
rs57211393	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57307347	0.91[EUR][1000 genomes]
rs57372160	1.00[EUR][1000 genomes]
rs57603155	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57723633	0.89[AMR][1000 genomes]
rs58402577	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58550963	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58719494	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59131065	0.80[AMR][1000 genomes]
rs59786011	1.00[EUR][1000 genomes]
rs59789333	0.84[EUR][1000 genomes]
rs60175455	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60864005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61422358	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61624710	1.00[EUR][1000 genomes]
rs6592619	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592620	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592624	0.91[EUR][1000 genomes]
rs6592625	0.91[EUR][1000 genomes]
rs6592626	0.91[EUR][1000 genomes]
rs6592627	0.91[EUR][1000 genomes]
rs7102363	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7102772	1.00[EUR][1000 genomes]
rs7103027	0.91[EUR][1000 genomes]
rs7103307	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7103473	0.91[EUR][1000 genomes]
rs7104995	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106336	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107438	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107640	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107716	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108353	0.91[EUR][1000 genomes]
rs7109579	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7110016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110886	1.00[EUR][1000 genomes]
rs7111495	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112734	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113414	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114434	0.91[EUR][1000 genomes]
rs7115333	1.00[EUR][1000 genomes]
rs7115733	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7119636	0.83[ASN][1000 genomes]
rs7121323	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7121876	0.91[EUR][1000 genomes]
rs7123752	1.00[EUR][1000 genomes]
rs7127326	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7127603	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129228	0.91[EUR][1000 genomes]
rs7129433	0.96[EUR][1000 genomes]
rs7131447	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73493995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73496123	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73496136	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73496149	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73496171	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73496192	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73498213	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73498295	0.91[EUR][1000 genomes]
rs73498302	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7930216	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7933383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933454	0.91[EUR][1000 genomes]
rs7935047	0.91[EUR][1000 genomes]
rs7937889	0.91[EUR][1000 genomes]
rs7941335	1.00[EUR][1000 genomes]
rs7942870	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942891	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944561	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7947864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948123	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949819	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7952260	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75658800-75695400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:75667000-75715200	Weak transcription	Left Ventricle	heart
3	chr11:75672200-75694600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:75673000-75714800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:75674400-75694400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:75674400-75694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:75675800-75700200	Weak transcription	Lung	lung
8	chr11:75678000-75695000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:75678000-75715600	Weak transcription	Aorta	Aorta
10	chr11:75678200-75694400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:75679200-75694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:75679400-75698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:75679600-75699000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:75679600-75716400	Weak transcription	Hela-S3	cervix
15	chr11:75679800-75694400	Weak transcription	HUVEC	blood vessel
16	chr11:75679800-75697800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:75681000-75700400	Weak transcription	Small Intestine	intestine
18	chr11:75682200-75694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:75682200-75715000	Weak transcription	Thymus	Thymus
20	chr11:75682600-75694400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:75684400-75694400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:75684600-75694400	Weak transcription	Dnd41	blood
23	chr11:75684600-75694600	Weak transcription	Adipose Nuclei	Adipose
24	chr11:75684800-75694600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:75685000-75694600	Weak transcription	Liver	Liver
26	chr11:75688000-75694400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:75688800-75694400	Weak transcription	Primary T cells from cord blood	blood
28	chr11:75688800-75694600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:75689000-75715200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:75689200-75716600	Weak transcription	Spleen	Spleen
31	chr11:75689400-75697800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:75689600-75694400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:75690000-75697800	Weak transcription	A549	lung
34	chr11:75690200-75693800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:75690400-75704200	Weak transcription	Fetal Stomach	stomach
36	chr11:75690600-75694600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:75691000-75694400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:75691000-75694400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:75691000-75698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:75691000-75704200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:75691000-75715600	Weak transcription	Fetal Intestine Small	intestine
42	chr11:75691200-75694400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:75691400-75697000	Weak transcription	Fetal Brain Female	brain
44	chr11:75691400-75700800	Weak transcription	Fetal Brain Male	brain
45	chr11:75691400-75716600	Weak transcription	Gastric	stomach
46	chr11:75691600-75694000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:75691600-75694600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:75691600-75696200	Weak transcription	Brain Germinal Matrix	brain
49	chr11:75691600-75697200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:75691600-75701800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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