Variant report

Variant	rs1882569
Chromosome Location	chr7:70733878-70733879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10238468	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10950253	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950254	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950255	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11764495	0.82[ASW][hapmap];0.96[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11765235	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11769358	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769361	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769394	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769421	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17522536	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1922509	0.81[EUR][1000 genomes]
rs1922510	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1922511	0.81[EUR][1000 genomes]
rs28540223	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867405	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2867406	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4717588	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55709743	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62457833	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974250	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793970	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794356	0.91[CHD][hapmap]
rs7795083	0.96[YRI][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1882569	SPDYE7P	cis	cerebellum	SCAN
rs1882569	WBSCR17	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70729400-70736200	Weak transcription	Ovary	ovary
2	chr7:70730800-70734400	Weak transcription	Fetal Lung	lung
3	chr7:70731200-70734400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:70731600-70734000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70731600-70734800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:70731800-70734400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:70731800-70734600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:70731800-70734600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70732000-70734600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:70732400-70735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:70732400-70745400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
13	chr7:70732600-70735000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:70732600-70736200	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:70732800-70737800	Weak transcription	Fetal Heart	heart
16	chr7:70733000-70734200	Enhancers	Fetal Muscle Leg	muscle
17	chr7:70733200-70734400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:70733200-70734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:70733200-70747000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:70733400-70734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:70733400-70735600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:70733400-70737600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:70733800-70734800	Enhancers	Left Ventricle	heart
24	chr7:70733800-70735000	Enhancers	Right Ventricle	heart

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