Variant report

Variant	rs13003130
Chromosome Location	chr2:172213091-172213092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11674632	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11677795	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11679835	0.85[EUR][1000 genomes]
rs11687454	0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11691073	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11694321	0.94[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11893310	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11902733	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12105780	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12989392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12989938	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12995219	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13000846	0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13002817	0.85[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13005615	0.81[AMR][1000 genomes]
rs13023287	0.81[AMR][1000 genomes]
rs13023973	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13031794	0.94[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13398989	0.82[EUR][1000 genomes]
rs2111459	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2356707	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36140780	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4668380	0.82[CEU][hapmap]
rs67077741	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6722670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7592018	0.81[AMR][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
rs13003130	METTL8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:172181000-172221600	Weak transcription	K562	blood
3	chr2:172193600-172218200	Weak transcription	HepG2	liver
4	chr2:172203400-172217200	Weak transcription	Small Intestine	intestine
5	chr2:172203800-172218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172204000-172213800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:172204600-172218600	Weak transcription	Ovary	ovary
8	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:172205000-172215200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:172205000-172216600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:172205000-172217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:172205000-172221400	Weak transcription	NHEK	skin
13	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:172205000-172221800	Weak transcription	Osteobl	bone
15	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:172205200-172218400	Weak transcription	Psoas Muscle	Psoas
17	chr2:172205200-172218400	Weak transcription	NHDF-Ad	bronchial
18	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:172211600-172214800	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr2:172211600-172215000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr2:172211600-172216000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:172211800-172213600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr2:172211800-172215000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr2:172211800-172215000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr2:172211800-172215200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:172211800-172215600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:172211800-172217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:172212200-172214600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr2:172212200-172215400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr2:172212400-172213200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr2:172212400-172214200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:172212400-172214200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172212400-172221600	Weak transcription	HMEC	breast
36	chr2:172212400-172222400	Weak transcription	Aorta	Aorta
37	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
38	chr2:172212600-172213400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:172212600-172214200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:172212600-172214600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr2:172212600-172215600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr2:172213000-172214400	Strong transcription	A549	lung
43	chr2:172213000-172215200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr2:172213000-172215800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr2:172213000-172215800	ZNF genes & repeats	Dnd41	blood

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