Variant report

Variant	rs4972502
Chromosome Location	chr2:173202455-173202456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10930550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4484005	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4487062	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552157	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4972802	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6433351	0.82[CHB][hapmap]
rs6433354	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716471	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6717736	0.80[ASN][1000 genomes]
rs6719962	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729717	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6729987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757748	0.80[ASN][1000 genomes]
rs7425380	0.80[ASN][1000 genomes]
rs7583083	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594561	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4972502	METTL8	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173195400-173204000	Weak transcription	Left Ventricle	heart
2	chr2:173195400-173204000	Weak transcription	Right Ventricle	heart
3	chr2:173197600-173204000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:173197600-173204400	Weak transcription	Thymus	Thymus
5	chr2:173197800-173204000	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:173198400-173204400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:173198600-173204000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:173198600-173204000	Weak transcription	Fetal Thymus	thymus
9	chr2:173198600-173204000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:173198600-173204200	Weak transcription	Fetal Lung	lung
11	chr2:173198800-173203600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:173198800-173204000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:173198800-173204000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:173199000-173203000	Enhancers	Colonic Mucosa	Colon
15	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
16	chr2:173199800-173203200	Enhancers	Fetal Intestine Large	intestine
17	chr2:173199800-173205000	Enhancers	Fetal Intestine Small	intestine
18	chr2:173200000-173204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:173200400-173204000	Weak transcription	HSMMtube	muscle
20	chr2:173201000-173202600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:173201600-173204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:173201800-173204200	Weak transcription	NHEK	skin
23	chr2:173201800-173204400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:173202000-173204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:173202000-173204000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:173202000-173204000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:173202000-173204200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:173202000-173204400	Weak transcription	NH-A	brain
29	chr2:173202000-173204800	Weak transcription	HMEC	breast
30	chr2:173202200-173204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:173202200-173204000	Weak transcription	Gastric	stomach
32	chr2:173202200-173204000	Weak transcription	HSMM	muscle
33	chr2:173202200-173204000	Weak transcription	Osteobl	bone
34	chr2:173202400-173203600	Weak transcription	Small Intestine	intestine
35	chr2:173202400-173204000	Weak transcription	Pancreas	Pancrea
36	chr2:173202400-173204000	Enhancers	HepG2	liver
37	chr2:173202400-173204200	Weak transcription	Lung	lung
38	chr2:173202400-173207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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