Variant report

Variant	rs6741930
Chromosome Location	chr2:172396366-172396367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:
2	chr2:171830241..171832520-chr2:172396337..172399397,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12476341	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13428567	0.81[EUR][1000 genomes]
rs2356783	0.80[EUR][1000 genomes]
rs4467241	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62181670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62183550	0.81[AMR][1000 genomes]
rs6730441	0.81[EUR][1000 genomes]
rs6734372	0.81[EUR][1000 genomes]
rs6751911	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7586144	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs884408	0.81[AMR][1000 genomes]

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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6741930	METTL8	cis	Esophagus Muscularis	GTEx
rs6741930	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172397800	Weak transcription	Gastric	stomach
2	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
3	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
4	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
5	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
9	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
10	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:172386400-172397800	Weak transcription	Aorta	Aorta
13	chr2:172386400-172419800	Weak transcription	Lung	lung
14	chr2:172386600-172397600	Weak transcription	Fetal Lung	lung
15	chr2:172386600-172397800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:172386800-172397600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:172386800-172400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:172387200-172397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
20	chr2:172387400-172398000	Weak transcription	NHEK	skin
21	chr2:172387800-172397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:172388200-172411000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:172388400-172411800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:172388600-172397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:172388800-172397600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:172388800-172397800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:172388800-172397800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:172388800-172398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:172388800-172398600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:172388800-172399200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:172388800-172403200	Weak transcription	Small Intestine	intestine
34	chr2:172388800-172407400	Weak transcription	HSMM	muscle
35	chr2:172388800-172410400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:172388800-172411000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
40	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:172389000-172397800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:172389000-172397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:172389000-172398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:172389000-172404000	Weak transcription	NH-A	brain
45	chr2:172389000-172411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:172389200-172398000	Weak transcription	Osteobl	bone
47	chr2:172389200-172398800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:172389400-172397800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:172390200-172397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:172390200-172398000	Weak transcription	Stomach Smooth Muscle	stomach

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