Variant report

Variant	rs6730441
Chromosome Location	chr2:172387820-172387821
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:

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

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

rs_ID	r²[population]
rs12476341	0.91[EUR][1000 genomes]
rs13428567	0.84[EUR][1000 genomes]
rs2356783	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4467241	0.89[EUR][1000 genomes]
rs62181670	0.86[EUR][1000 genomes]
rs62183550	0.81[EUR][1000 genomes]
rs6734372	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741930	0.81[EUR][1000 genomes]
rs6743679	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6751911	0.91[EUR][1000 genomes]
rs7586144	0.92[EUR][1000 genomes]
rs7586174	0.82[EUR][1000 genomes]
rs884408	0.82[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
rs6730441	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL
rs6730441	METTL8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
3	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:172381000-172397800	Weak transcription	Gastric	stomach
5	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
6	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
7	chr2:172381200-172388400	Weak transcription	A549	lung
8	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
9	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:172381400-172388000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:172381400-172388600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
15	chr2:172381800-172388400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
17	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:172386000-172389000	Enhancers	Adipose Nuclei	Adipose
20	chr2:172386400-172397800	Weak transcription	Aorta	Aorta
21	chr2:172386400-172419800	Weak transcription	Lung	lung
22	chr2:172386600-172388600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:172386600-172391200	Weak transcription	Fetal Kidney	kidney
24	chr2:172386600-172397600	Weak transcription	Fetal Lung	lung
25	chr2:172386600-172397800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:172386800-172388000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:172386800-172388200	Enhancers	K562	blood
28	chr2:172386800-172388600	Enhancers	Colon Smooth Muscle	Colon
29	chr2:172386800-172388800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:172386800-172388800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:172386800-172389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:172386800-172389000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172386800-172397600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:172386800-172400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:172387000-172388200	Enhancers	NHLF	lung
36	chr2:172387000-172388800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:172387000-172388800	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:172387000-172388800	Enhancers	HSMM	muscle
39	chr2:172387000-172388800	Enhancers	HSMMtube	muscle
40	chr2:172387000-172389200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:172387200-172388000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:172387200-172388600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:172387200-172388800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:172387200-172397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
46	chr2:172387400-172388800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:172387400-172389000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:172387400-172390800	Weak transcription	Ovary	ovary
49	chr2:172387400-172398000	Weak transcription	NHEK	skin
50	chr2:172387600-172388000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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