Variant report

Variant	rs12118755
Chromosome Location	chr1:56750366-56750367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10888959	0.83[EUR][1000 genomes]
rs11206756	0.85[EUR][1000 genomes]
rs12117416	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12118298	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12119318	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12121243	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12129181	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12132862	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12136560	0.86[AMR][1000 genomes]
rs12140232	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140564	0.88[EUR][1000 genomes]
rs12140921	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143116	0.88[EUR][1000 genomes]
rs12144574	0.88[EUR][1000 genomes]
rs1341339	0.95[CEU][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs1341345	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1341352	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1341358	0.89[EUR][1000 genomes]
rs1417771	0.95[CEU][hapmap];1.00[CHD][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs1539058	0.84[EUR][1000 genomes]
rs1539059	0.83[EUR][1000 genomes]
rs17423986	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2792798	0.89[EUR][1000 genomes]
rs2792799	0.89[EUR][1000 genomes]
rs2793678	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2793685	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2793686	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2793687	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6588612	0.88[EUR][1000 genomes]
rs6673309	0.95[CEU][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6685185	0.88[EUR][1000 genomes]
rs6687944	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72675587	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72675591	0.86[EUR][1000 genomes]
rs72677469	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72677477	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7512771	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7548377	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7554047	0.85[EUR][1000 genomes]
rs7556455	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs947251	0.82[AMR][1000 genomes];0.84[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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12118755	C8B	cis	parietal	SCAN
rs12118755	FGGY	cis	parietal	SCAN
rs12118755	DMRTB1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56745400-56757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:56748400-56759600	Weak transcription	Aorta	Aorta
3	chr1:56750000-56752200	Enhancers	HepG2	liver
4	chr1:56750000-56753400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56750200-56750400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:56750200-56750400	Enhancers	Right Atrium	heart
7	chr1:56750200-56750800	Enhancers	A549	lung
8	chr1:56750200-56751000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:56750200-56752000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:56750200-56752000	Enhancers	HSMMtube	muscle
11	chr1:56750200-56752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:56750200-56752200	Enhancers	Left Ventricle	heart
13	chr1:56750200-56752600	Enhancers	Fetal Muscle Leg	muscle
14	chr1:56750200-56752800	Enhancers	Adipose Nuclei	Adipose
15	chr1:56750200-56752800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:56750200-56753000	Enhancers	Skeletal Muscle Female	skeletal muscle

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