Variant report

Variant	rs12989938
Chromosome Location	chr2:172211344-172211345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11674632	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11677795	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11679835	0.84[EUR][1000 genomes]
rs11687454	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691073	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11694321	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11893310	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11902733	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12105780	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12989392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12995219	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13000846	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13002817	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13003130	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13005615	0.81[AMR][1000 genomes]
rs13023287	0.81[AMR][1000 genomes]
rs13023973	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13031794	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13398989	0.84[EUR][1000 genomes]
rs2111459	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2356707	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36140780	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67077741	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6722670	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7592018	0.81[AMR][1000 genomes];0.81[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12989938	METTL8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172171800-172211600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:172181000-172221600	Weak transcription	K562	blood
4	chr2:172193600-172218200	Weak transcription	HepG2	liver
5	chr2:172202200-172212200	Weak transcription	Esophagus	oesophagus
6	chr2:172202400-172211800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:172203400-172217200	Weak transcription	Small Intestine	intestine
8	chr2:172203800-172218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:172204000-172213800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:172204600-172218600	Weak transcription	Ovary	ovary
11	chr2:172204800-172211600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:172204800-172211800	Weak transcription	Fetal Stomach	stomach
13	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:172205000-172211800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:172205000-172212600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:172205000-172213000	Weak transcription	A549	lung
17	chr2:172205000-172215200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:172205000-172216600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:172205000-172217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:172205000-172221400	Weak transcription	NHEK	skin
21	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:172205000-172221800	Weak transcription	Osteobl	bone
23	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:172205200-172211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:172205200-172211800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:172205200-172218400	Weak transcription	Psoas Muscle	Psoas
27	chr2:172205200-172218400	Weak transcription	NHDF-Ad	bronchial
28	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:172209600-172211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:172210800-172212200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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