Variant report

Variant	rs7554047
Chromosome Location	chr1:56668472-56668473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10888959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206756	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206759	0.83[AMR][1000 genomes]
rs11206760	0.81[AMR][1000 genomes]
rs12117416	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118289	0.83[AMR][1000 genomes]
rs12118298	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118755	0.85[EUR][1000 genomes]
rs12119318	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119413	0.83[AMR][1000 genomes]
rs12121243	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126843	0.82[AMR][1000 genomes]
rs12129181	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132862	0.93[EUR][1000 genomes]
rs12136560	0.80[EUR][1000 genomes]
rs12140232	0.93[EUR][1000 genomes]
rs12140564	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140921	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12142085	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12143116	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144574	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341337	0.81[EUR][1000 genomes]
rs1341339	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs1341358	0.94[EUR][1000 genomes]
rs1417768	0.83[EUR][1000 genomes]
rs1417771	0.90[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17423986	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792798	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792799	0.94[EUR][1000 genomes]
rs2792800	0.80[EUR][1000 genomes]
rs57193460	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6588611	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6588612	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6673309	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685185	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687944	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6694549	0.83[AMR][1000 genomes]
rs72675587	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72675591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677469	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72677477	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512771	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512969	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7548377	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7556455	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7554047	C8B	cis	parietal	SCAN
rs7554047	DMRTB1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56653800-56669400	Enhancers	Placenta	Placenta
2	chr1:56662200-56668600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:56663200-56670000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:56664400-56669200	Weak transcription	Right Ventricle	heart
5	chr1:56665600-56668800	Enhancers	NHDF-Ad	bronchial
6	chr1:56665600-56669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:56666400-56672200	Weak transcription	Left Ventricle	heart
8	chr1:56666800-56669200	Weak transcription	Fetal Lung	lung
9	chr1:56667600-56671600	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:56667800-56668600	Enhancers	Fetal Stomach	stomach
11	chr1:56667800-56668800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:56668200-56669200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:56668200-56678000	Weak transcription	Psoas Muscle	Psoas
14	chr1:56668400-56668600	Enhancers	Ovary	ovary
15	chr1:56668400-56668600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:56668400-56669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:56668400-56670000	Enhancers	Dnd41	blood

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