Variant report

Variant	rs6751911
Chromosome Location	chr2:172386477-172386478
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	chr2:172385355..172388026-chr2:172396633..172399504,2	MCF-7	breast:
2	chr2:172289827..172292019-chr2:172385412..172387169,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12476341	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13428567	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356783	0.90[EUR][1000 genomes]
rs4467241	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181670	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183550	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6730441	0.91[EUR][1000 genomes]
rs6734372	0.91[EUR][1000 genomes]
rs6741930	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6743679	0.91[EUR][1000 genomes]
rs7586144	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586174	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884408	0.92[AMR][1000 genomes];0.90[EUR][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
rs6751911	METTL8	cis	Esophagus Muscularis	GTEx
rs6751911	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172380600-172387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172381000-172387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
5	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172381000-172397800	Weak transcription	Gastric	stomach
7	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
8	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
9	chr2:172381200-172386800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:172381200-172387000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:172381200-172387000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:172381200-172387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:172381200-172387400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:172381200-172387400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:172381200-172387800	Weak transcription	NH-A	brain
16	chr2:172381200-172388400	Weak transcription	A549	lung
17	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
18	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:172381400-172386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172381400-172386800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:172381400-172386800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:172381400-172387000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:172381400-172388000	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:172381400-172388600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
28	chr2:172381600-172386800	Weak transcription	Osteobl	bone
29	chr2:172381800-172388400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:172382000-172386600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:172382000-172387000	Weak transcription	HUVEC	blood vessel
32	chr2:172382000-172387000	Weak transcription	NHLF	lung
33	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
34	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172382200-172387000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:172382200-172387000	Weak transcription	HSMM	muscle
37	chr2:172382200-172387000	Weak transcription	NHEK	skin
38	chr2:172382400-172386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:172382400-172386800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:172383600-172386800	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:172385200-172386600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr2:172385600-172386600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:172386000-172386600	Strong transcription	Fetal Lung	lung
45	chr2:172386000-172386800	ZNF genes & repeats	GM12878-XiMat	blood
46	chr2:172386000-172387000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:172386000-172389000	Enhancers	Adipose Nuclei	Adipose
48	chr2:172386200-172386600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr2:172386200-172386600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:172386200-172386600	Enhancers	Fetal Kidney	kidney

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