Variant report

Variant	rs7549387
Chromosome Location	chr1:56290349-56290350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493182	0.90[ASN][1000 genomes]
rs10493184	0.90[ASN][1000 genomes]
rs11206666	0.93[ASN][1000 genomes]
rs12028981	0.90[ASN][1000 genomes]
rs12033494	0.90[ASN][1000 genomes]
rs12034422	0.90[ASN][1000 genomes]
rs12040991	0.93[ASN][1000 genomes]
rs12045580	0.90[ASN][1000 genomes]
rs12404504	0.90[ASN][1000 genomes]
rs12406573	0.90[ASN][1000 genomes]
rs12409446	0.90[ASN][1000 genomes]
rs17112899	0.90[ASN][1000 genomes]
rs17112961	0.90[ASN][1000 genomes]
rs17113003	0.90[ASN][1000 genomes]
rs4130692	0.87[ASN][1000 genomes]
rs4244649	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4244650	0.93[ASN][1000 genomes]
rs4333889	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4367815	1.00[CHB][hapmap]
rs4369267	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4379710	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4384273	1.00[EUR][1000 genomes]
rs4433442	0.87[CEU][hapmap]
rs4503390	1.00[EUR][1000 genomes]
rs4512692	1.00[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4634948	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4926697	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs4927270	0.98[EUR][1000 genomes]
rs4927273	0.90[ASN][1000 genomes]
rs6662329	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv1002958	chr1:56278696-56295112	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7549387	ZSWIM1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56280400-56291000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:56283000-56293000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:56283200-56292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:56287800-56290600	Weak transcription	Fetal Kidney	kidney
5	chr1:56287800-56291000	Enhancers	Fetal Intestine Large	intestine
6	chr1:56288000-56292000	Enhancers	Fetal Lung	lung
7	chr1:56288400-56290400	Enhancers	NHDF-Ad	bronchial
8	chr1:56289400-56292800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:56289600-56292000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:56289600-56292000	Weak transcription	Fetal Stomach	stomach
11	chr1:56289600-56292400	Weak transcription	Osteobl	bone
12	chr1:56289800-56290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:56289800-56290800	Weak transcription	NHLF	lung
14	chr1:56289800-56291200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:56289800-56291200	Weak transcription	Placenta	Placenta
16	chr1:56289800-56292000	Weak transcription	HSMMtube	muscle
17	chr1:56289800-56292200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:56289800-56292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:56289800-56292600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:56289800-56293000	Weak transcription	NH-A	brain
21	chr1:56290200-56290600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:56290200-56291200	Weak transcription	Fetal Intestine Small	intestine

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