Variant report

Variant	rs1683346
Chromosome Location	chr3:59749703-59749704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1349019	0.92[EUR][1000 genomes]
rs1385716	1.00[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1629023	0.82[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1666065	0.94[EUR][1000 genomes]
rs1666066	0.94[EUR][1000 genomes]
rs2605437	0.94[EUR][1000 genomes]
rs293606	0.85[ASN][1000 genomes]
rs9826481	0.80[ASN][1000 genomes]
rs994928	0.92[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	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1683346	FHIT	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59738800-59754400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr3:59741600-59757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:59743400-59750200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:59745200-59757000	Weak transcription	Dnd41	blood
5	chr3:59745400-59751200	Weak transcription	Osteobl	bone
6	chr3:59745600-59751200	Weak transcription	Fetal Lung	lung
7	chr3:59745600-59752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:59746200-59750600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:59746800-59757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:59747000-59751000	Weak transcription	Primary T cells from cord blood	blood
11	chr3:59747000-59757200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:59747200-59757000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:59747800-59750600	Enhancers	Fetal Stomach	stomach
14	chr3:59748400-59752600	Enhancers	Fetal Muscle Leg	muscle
15	chr3:59748600-59752200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:59748800-59751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:59748800-59752800	Enhancers	NHDF-Ad	bronchial
18	chr3:59749000-59750000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:59749000-59750000	Enhancers	Stomach Mucosa	stomach
20	chr3:59749200-59750000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:59749400-59749800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:59749400-59752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:59749600-59750400	Enhancers	Fetal Brain Female	brain
24	chr3:59749600-59750400	Enhancers	Fetal Thymus	thymus

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