Variant report

Variant	rs4521648
Chromosome Location	chr7:70929635-70929636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10229218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10231160	0.99[ASN][1000 genomes]
rs10249266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10261379	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs10263612	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs10264348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10269550	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11535131	0.95[ASN][1000 genomes]
rs11561753	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12536772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989271	1.00[ASW][hapmap]
rs28737355	0.96[ASN][1000 genomes]
rs36109349	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075533	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4075535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4077592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4236252	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4403306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476891	0.96[ASN][1000 genomes]
rs4577851	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55810201	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55998816	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57078692	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57551096	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57914683	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58454573	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58520021	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58840129	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59209078	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59497117	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59524554	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59724842	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60191232	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60955657	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61080489	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6947338	0.93[ASN][1000 genomes]
rs6965355	0.94[ASN][1000 genomes]
rs6977404	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73365669	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73365694	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7786783	0.95[ASN][1000 genomes]
rs7787297	0.96[ASN][1000 genomes]
rs7805130	0.95[ASN][1000 genomes]
rs7806529	0.98[ASN][1000 genomes]
rs875979	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70908400-70935200	Weak transcription	Fetal Lung	lung
2	chr7:70923800-70935200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:70927000-70929800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70927200-70929800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:70927200-70937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:70928200-70932400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:70928800-70930800	Enhancers	Right Ventricle	heart
8	chr7:70929000-70929800	Enhancers	Left Ventricle	heart
9	chr7:70929200-70932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70929200-70932800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:70929200-70933000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:70929400-70930400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:70929400-70930800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:70929400-70931200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70929400-70933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:70929400-70936000	Weak transcription	Ovary	ovary
17	chr7:70929600-70930000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:70929600-70930000	Flanking Active TSS	Fetal Heart	heart
19	chr7:70929600-70930200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:70929600-70931000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:70929600-70931200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:70929600-70932800	Enhancers	HUES64 Cell Line	embryonic stem cell

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