Variant report

Variant	rs6734372
Chromosome Location	chr2:172388804-172388805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12476341	0.82[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs13428567	0.84[EUR][1000 genomes]
rs2111720	1.00[GIH][hapmap]
rs2356783	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2674490	1.00[GIH][hapmap]
rs4467241	0.89[EUR][1000 genomes]
rs62181670	0.86[EUR][1000 genomes]
rs62183550	0.81[EUR][1000 genomes]
rs6730441	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	0.91[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751911	0.91[EUR][1000 genomes]
rs7586144	0.88[CEU][hapmap];1.00[TSI][hapmap];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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6734372	SSB	cis	cerebellum	SCAN
rs6734372	METTL8	cis	Esophagus Muscularis	GTEx
rs6734372	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL
rs6734372	CYBRD1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172381000-172397800	Weak transcription	Gastric	stomach
3	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
4	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
5	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
6	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
10	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
11	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:172386000-172389000	Enhancers	Adipose Nuclei	Adipose
14	chr2:172386400-172397800	Weak transcription	Aorta	Aorta
15	chr2:172386400-172419800	Weak transcription	Lung	lung
16	chr2:172386600-172391200	Weak transcription	Fetal Kidney	kidney
17	chr2:172386600-172397600	Weak transcription	Fetal Lung	lung
18	chr2:172386600-172397800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:172386800-172389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:172386800-172389000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:172386800-172397600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:172386800-172400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:172387000-172389200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:172387200-172397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
26	chr2:172387400-172389000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:172387400-172390800	Weak transcription	Ovary	ovary
28	chr2:172387400-172398000	Weak transcription	NHEK	skin
29	chr2:172387800-172389000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:172387800-172397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:172388200-172389000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:172388200-172390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:172388200-172392000	Weak transcription	K562	blood
35	chr2:172388200-172411000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:172388400-172411800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:172388600-172389000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:172388600-172389000	Enhancers	NHDF-Ad	bronchial
39	chr2:172388600-172389200	Enhancers	HUVEC	blood vessel
40	chr2:172388600-172389800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:172388600-172397800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:172388800-172389000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:172388800-172389000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:172388800-172389000	Active TSS	GM12878-XiMat	blood
46	chr2:172388800-172389000	Enhancers	NH-A	brain
47	chr2:172388800-172389000	Genic enhancers	NHLF	lung
48	chr2:172388800-172389200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:172388800-172389200	Enhancers	Osteobl	bone
50	chr2:172388800-172390600	Weak transcription	HSMMtube	muscle

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