Variant report

Variant	rs13431163
Chromosome Location	chr2:187714660-187714661
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	MXI1	chr2:187713278-187714722	IMR90	lung:	n/a	chr2:187713936-187713951 chr2:187713909-187713924 chr2:187713938-187713953 chr2:187713911-187713926
2	MXI1	chr2:187712816-187714708	SK-N-SH	brain:	n/a	chr2:187713936-187713951 chr2:187713909-187713924 chr2:187713938-187713953 chr2:187713911-187713926

Variant related genes	Relation type
ZSWIM2	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10164815	0.81[ASN][1000 genomes]
rs10166117	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10169570	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10169582	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10169671	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10172225	0.81[ASN][1000 genomes]
rs10175178	0.81[ASN][1000 genomes]
rs10178860	0.81[ASN][1000 genomes]
rs10179175	0.81[ASN][1000 genomes]
rs10181270	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10183672	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10187599	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188450	0.81[ASN][1000 genomes]
rs10188850	0.81[ASN][1000 genomes]
rs10188869	0.81[ASN][1000 genomes]
rs10189037	0.81[ASN][1000 genomes]
rs10191094	0.81[ASN][1000 genomes]
rs10191209	0.81[ASN][1000 genomes]
rs10195632	0.81[ASN][1000 genomes]
rs10195758	0.81[ASN][1000 genomes]
rs10200056	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10200250	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201183	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201512	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10204903	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10207244	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10207487	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10210233	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10210806	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10211050	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11885224	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892669	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11894819	0.81[ASN][1000 genomes]
rs11898022	0.81[ASN][1000 genomes]
rs11898112	0.81[ASN][1000 genomes]
rs11898741	0.81[ASN][1000 genomes]
rs11903271	0.81[ASN][1000 genomes]
rs13399866	0.81[ASN][1000 genomes]
rs13400804	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13401579	0.81[ASN][1000 genomes]
rs13407429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414169	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13426438	0.81[ASN][1000 genomes]
rs13428262	0.98[EUR][1000 genomes]
rs13431108	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432873	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1451556	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451561	0.92[EUR][1000 genomes]
rs16828310	0.95[EUR][1000 genomes]
rs17751491	0.95[EUR][1000 genomes]
rs17852915	0.81[ASN][1000 genomes]
rs17852916	0.81[ASN][1000 genomes]
rs17856918	0.81[ASN][1000 genomes]
rs2084752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084753	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475061	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28740839	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35121986	0.81[ASN][1000 genomes]
rs41404244	0.97[EUR][1000 genomes]
rs4429438	0.81[ASN][1000 genomes]
rs4545967	0.81[ASN][1000 genomes]
rs59048647	0.90[EUR][1000 genomes]
rs61626504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62171892	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62171921	0.95[EUR][1000 genomes]
rs6434197	0.81[ASN][1000 genomes]
rs6708289	0.81[ASN][1000 genomes]
rs6722473	0.81[ASN][1000 genomes]
rs6725956	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726153	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733279	0.81[ASN][1000 genomes]
rs6738033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744956	0.81[ASN][1000 genomes]
rs6745065	0.81[ASN][1000 genomes]
rs6745572	0.81[ASN][1000 genomes]
rs6745642	0.81[ASN][1000 genomes]
rs67477382	0.97[EUR][1000 genomes]
rs6750961	0.81[ASN][1000 genomes]
rs6751828	0.81[ASN][1000 genomes]
rs6752200	0.81[ASN][1000 genomes]
rs6760362	0.81[ASN][1000 genomes]
rs72895306	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7581809	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7595459	0.81[ASN][1000 genomes]
rs7598838	0.81[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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187713200-187715200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:187713600-187714800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:187714200-187714800	Flanking Active TSS	Fetal Brain Male	brain
4	chr2:187714200-187714800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr2:187714200-187718400	Weak transcription	Pancreas	Pancrea
6	chr2:187714400-187714800	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:187714400-187718200	Weak transcription	HUVEC	blood vessel
8	chr2:187714400-187718400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:187714600-187714800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:187714600-187714800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:187714600-187714800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:187714600-187714800	Active TSS	Fetal Brain Female	brain
13	chr2:187714600-187714800	Enhancers	NH-A	brain
14	chr2:187714600-187714800	Enhancers	NHDF-Ad	bronchial
15	chr2:187714600-187714800	Enhancers	Osteobl	bone
16	chr2:187714600-187715000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:187714600-187715000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:187714600-187715800	Weak transcription	Placenta	Placenta
19	chr2:187714600-187718400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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