Variant report

Variant	rs550281
Chromosome Location	chr8:102914320-102914321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102912593..102916375-chr8:102916443..102918583,3	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1144545	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148496	0.86[CEU][hapmap];0.84[GIH][hapmap]
rs1148497	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs1148498	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1148499	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1148501	0.80[EUR][1000 genomes]
rs1264865	0.87[CEU][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs1264866	0.91[CEU][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs1264930	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs1264931	0.80[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]
rs1264933	0.86[GIH][hapmap]
rs1264942	0.93[ASN][1000 genomes]
rs1264946	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1264948	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1264949	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1271946	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313944	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1313945	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2155938	0.83[CEU][hapmap]
rs2155939	0.80[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap]
rs2155942	0.87[CEU][hapmap]
rs2226724	0.83[CEU][hapmap]
rs472471	0.87[CEU][hapmap]
rs472638	0.95[CEU][hapmap];0.84[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs472963	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs473498	0.87[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs477236	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478092	0.91[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs478189	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs478875	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs478896	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs478917	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs479041	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs479742	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs480570	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs480955	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs481545	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482023	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs484657	0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs485252	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs485263	0.91[EUR][1000 genomes]
rs485363	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs486196	0.86[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs486496	0.88[EUR][1000 genomes]
rs487863	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs487987	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs488034	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs489973	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs490032	0.91[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs490096	0.91[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs490125	0.87[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494352	0.91[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs495636	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497905	0.86[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs502334	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs505460	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs506026	0.87[EUR][1000 genomes]
rs508386	0.87[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs510524	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs512202	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs513159	0.95[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs513472	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs514057	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs517868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519197	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs520880	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs526533	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs529684	0.95[CEU][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs531624	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs534512	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs537941	0.91[CEU][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs539663	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs540459	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs542208	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs543897	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544821	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs544928	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs549281	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs551295	0.91[CEU][hapmap];0.84[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs553463	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs554036	0.87[CEU][hapmap]
rs554945	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs557654	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs558159	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558772	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs558985	0.89[EUR][1000 genomes]
rs561000	0.87[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs561603	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562037	0.95[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs563463	0.95[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs563493	0.91[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs564718	0.91[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs566264	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566315	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs566392	0.95[CEU][hapmap];0.84[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs566501	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs568194	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs569015	0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs569787	0.95[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs571673	0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs572692	0.91[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576173	0.91[EUR][1000 genomes]
rs577756	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs578603	0.83[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984260	0.83[CEU][hapmap]
rs6991592	0.80[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap]
rs7813132	0.86[CEU][hapmap]
rs7827941	0.83[CEU][hapmap]
rs7828516	0.80[CEU][hapmap]
rs7829693	0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs550281	NCALD	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102896400-102914800	Weak transcription	Right Ventricle	heart
2	chr8:102898000-102914600	Weak transcription	Ovary	ovary
3	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
4	chr8:102904200-102914600	Weak transcription	K562	blood
5	chr8:102910200-102914600	Weak transcription	Liver	Liver
6	chr8:102910200-102916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:102910200-102919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:102913800-102914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:102914000-102914600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:102914000-102914800	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:102914000-102914800	Enhancers	Fetal Muscle Leg	muscle
12	chr8:102914000-102916200	Enhancers	Lung	lung
13	chr8:102914200-102914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:102914200-102914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:102914200-102914600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:102914200-102915400	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:102914200-102915400	Enhancers	NHEK	skin
18	chr8:102914200-102916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102914200-102916400	Enhancers	HMEC	breast
20	chr8:102914200-102916600	Enhancers	Fetal Heart	heart

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