Variant report

Variant	rs7010848
Chromosome Location	chr8:102970428-102970429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102970055..102972345-chr8:102973060..102976868,3	MCF-7	breast:
2	chr8:102968711..102970531-chr8:102970861..102973050,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10097554	0.88[CEU][hapmap]
rs10098273	0.95[EUR][1000 genomes]
rs10099842	0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1119377	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs11778653	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545403	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13278642	0.81[CEU][hapmap]
rs1371739	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371740	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543771	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs17495818	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1866690	0.90[EUR][1000 genomes]
rs1866691	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1866692	0.91[EUR][1000 genomes]
rs1866693	0.91[EUR][1000 genomes]
rs2119226	0.92[CEU][hapmap]
rs4145554	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs4734042	0.85[CEU][hapmap]
rs4734043	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734044	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734045	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734046	0.91[EUR][1000 genomes]
rs4734047	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734048	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734602	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734603	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs4734604	0.92[EUR][1000 genomes]
rs4734606	0.96[CEU][hapmap];0.98[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs6468803	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6468804	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6468805	0.96[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs6468806	0.91[EUR][1000 genomes]
rs6468807	0.96[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs6981347	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs6982001	0.92[CEU][hapmap];0.93[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs6991019	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991178	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6995105	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999047	0.91[EUR][1000 genomes]
rs6999316	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7003320	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7015981	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820244	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7823856	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7838556	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7838767	0.96[EUR][1000 genomes]
rs7839884	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7840045	0.94[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7841927	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv972563	chr8:102970051-102975959	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2761453	chr8:102970136-102974682	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7010848	NCALD	cis	cerebellum	SCAN
rs7010848	MATN2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102961000-102971200	Weak transcription	Aorta	Aorta
2	chr8:102963200-102973600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:102965200-102970800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:102965400-102971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:102966800-102971000	Weak transcription	Right Ventricle	heart
7	chr8:102967400-102972200	Weak transcription	GM12878-XiMat	blood
8	chr8:102968800-102970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:102968800-102972200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:102968800-102974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:102969200-102979600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:102969600-102970800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:102969800-102971600	Enhancers	NHDF-Ad	bronchial
14	chr8:102969800-102971800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:102970000-102974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:102970200-102973800	Weak transcription	Ovary	ovary
17	chr8:102970200-102973800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:102970200-102973800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:102970400-102979600	Weak transcription	Left Ventricle	heart
20	chr8:102970400-102980800	Weak transcription	Psoas Muscle	Psoas

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