Variant report

Variant	rs7829693
Chromosome Location	chr8:102842872-102842873
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102841778..102844657-chr8:102844886..102847440,3	K562	blood:
2	chr8:102842176..102845083-chr8:102849432..102850991,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1148496	0.87[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs1148497	0.81[EUR][1000 genomes]
rs1148498	0.83[CEU][hapmap]
rs1148499	0.83[CHD][hapmap];0.97[GIH][hapmap];0.86[LWK][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs1264865	0.80[CHD][hapmap];0.97[GIH][hapmap]
rs1264866	0.83[CEU][hapmap];1.00[GIH][hapmap]
rs1264930	0.92[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs1264931	0.96[CEU][hapmap];0.97[GIH][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs1264932	0.93[EUR][1000 genomes]
rs1264933	0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1272384	0.92[EUR][1000 genomes]
rs1313944	0.81[EUR][1000 genomes]
rs13251735	0.83[MEX][hapmap]
rs2155938	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2155939	0.96[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs2155940	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2155941	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2155942	0.87[CEU][hapmap]
rs2226724	0.92[CEU][hapmap]
rs28623673	1.00[EUR][1000 genomes]
rs2892324	0.80[CEU][hapmap]
rs472471	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs472638	0.92[GIH][hapmap];0.88[TSI][hapmap]
rs472963	0.81[CHD][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs477236	0.83[CEU][hapmap]
rs478092	0.83[CEU][hapmap];1.00[GIH][hapmap]
rs478875	0.83[CEU][hapmap]
rs478917	0.86[GIH][hapmap];0.88[TSI][hapmap]
rs479041	0.97[GIH][hapmap];0.88[TSI][hapmap]
rs480955	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs484657	0.83[CEU][hapmap];0.83[GIH][hapmap]
rs486196	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs488034	0.82[EUR][1000 genomes]
rs489973	0.97[GIH][hapmap];0.88[TSI][hapmap]
rs490032	0.83[CEU][hapmap];0.89[GIH][hapmap]
rs490096	0.83[CEU][hapmap]
rs490125	0.82[GIH][hapmap]
rs497905	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs512202	0.83[CEU][hapmap];0.83[GIH][hapmap]
rs513472	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs519197	0.82[EUR][1000 genomes]
rs520880	0.83[CHD][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs526533	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs529684	0.86[GIH][hapmap];0.88[TSI][hapmap]
rs534512	0.83[CEU][hapmap]
rs537941	0.83[CEU][hapmap];1.00[GIH][hapmap]
rs539663	0.83[CEU][hapmap]
rs540459	0.86[GIH][hapmap];0.88[TSI][hapmap]
rs544821	0.83[CEU][hapmap]
rs544928	0.83[CEU][hapmap]
rs549281	0.86[GIH][hapmap];0.85[TSI][hapmap]
rs550281	0.86[GIH][hapmap]
rs551295	0.94[GIH][hapmap];0.88[TSI][hapmap]
rs554036	0.88[CEU][hapmap]
rs554945	0.83[CEU][hapmap];0.86[GIH][hapmap]
rs563463	0.97[GIH][hapmap];0.82[TSI][hapmap]
rs563493	0.83[CEU][hapmap]
rs564718	0.83[CEU][hapmap];1.00[GIH][hapmap]
rs566264	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs566392	0.97[GIH][hapmap];0.88[TSI][hapmap]
rs566501	0.87[CEU][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs572692	0.83[CEU][hapmap]
rs578603	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs67887846	0.92[EUR][1000 genomes]
rs6984260	0.92[CEU][hapmap]
rs6991592	0.96[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs7813132	0.86[CEU][hapmap]
rs7827304	0.84[CEU][hapmap]
rs7827691	0.94[JPT][hapmap]
rs7827941	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs7828175	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7828516	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840760	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7842147	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297313	0.89[EUR][1000 genomes]

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	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7829693	NCALD	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102832200-102843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:102834800-102843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:102835000-102844400	Weak transcription	Psoas Muscle	Psoas
5	chr8:102835000-102852000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:102836200-102844400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:102836600-102844000	Weak transcription	Fetal Heart	heart
8	chr8:102836600-102844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:102836800-102843800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:102837200-102844000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:102837800-102843800	Weak transcription	Aorta	Aorta
12	chr8:102838600-102848400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:102839600-102843800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:102840400-102843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:102840400-102843800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:102840400-102843800	Weak transcription	Left Ventricle	heart
17	chr8:102840400-102843800	Weak transcription	NHDF-Ad	bronchial
18	chr8:102840400-102844000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:102840400-102844200	Weak transcription	HSMMtube	muscle
20	chr8:102840400-102844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:102840600-102843800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:102840600-102844000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:102840600-102844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:102840800-102845200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:102842200-102851000	Weak transcription	Fetal Kidney	kidney
26	chr8:102842400-102844000	Weak transcription	Fetal Brain Male	brain

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