Variant report

Variant	rs61825348
Chromosome Location	chr1:169998492-169998493
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	MXI1	chr1:169998480-169998680	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KIFAP3	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11579254	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11584208	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11588736	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1360294	0.96[EUR][1000 genomes]
rs1572551	0.85[EUR][1000 genomes]
rs16862870	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16862874	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16862902	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16862943	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1928887	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2150111	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41496844	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656202	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656730	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656731	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4656732	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56041446	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59916635	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61806098	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61825319	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61825320	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825343	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61825344	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825346	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825347	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825352	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825353	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825354	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825356	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61825358	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61827261	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73035088	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
6	chr1:169968800-169999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:169968800-170010800	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:169969000-170012600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
11	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:169979800-170015200	Weak transcription	HMEC	breast
13	chr1:169980000-170006600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:169981600-170013400	Weak transcription	Lung	lung
15	chr1:169982400-170020600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:169983000-170017200	Weak transcription	HSMMtube	muscle
17	chr1:169983800-170017600	Weak transcription	Spleen	Spleen
18	chr1:169984600-170020800	Weak transcription	Gastric	stomach
19	chr1:169984800-170027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:169985000-170010800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:169985000-170012800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:169985200-170020400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:169985800-170003000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:169985800-170010800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:169985800-170010800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:169986200-170006600	Weak transcription	Ovary	ovary
27	chr1:169986200-170010600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:169986400-170013600	Weak transcription	Left Ventricle	heart
29	chr1:169986400-170019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:169988000-170001200	Weak transcription	Osteobl	bone
31	chr1:169988000-170017600	Weak transcription	Fetal Lung	lung
32	chr1:169989200-170006400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:169989600-170019800	Weak transcription	Right Ventricle	heart
34	chr1:169989800-170013400	Weak transcription	Psoas Muscle	Psoas
35	chr1:169990000-170004400	Weak transcription	Dnd41	blood
36	chr1:169990400-170017200	Weak transcription	Fetal Kidney	kidney
37	chr1:169993200-170002000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:169993600-170010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:169993600-170021400	Weak transcription	Fetal Brain Male	brain
40	chr1:169993800-170003000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:169994400-170001400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:169994600-169998800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:169995400-170017800	Weak transcription	Pancreas	Pancrea
44	chr1:169995800-170006200	Weak transcription	Liver	Liver
45	chr1:169996000-170000400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:169996800-170010000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:169997200-170002200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:169997200-170006200	Weak transcription	Adipose Nuclei	Adipose
49	chr1:169997200-170006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:169997200-170010600	Weak transcription	Primary B cells from peripheral blood	blood

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