Variant report

Variant	rs17143004
Chromosome Location	chr7:70722953-70722954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1017042	0.88[YRI][hapmap]
rs1017043	0.88[YRI][hapmap]
rs1017044	0.87[YRI][hapmap]
rs10227106	1.00[AMR][1000 genomes]
rs10233052	1.00[AMR][1000 genomes]
rs10262011	1.00[AMR][1000 genomes]
rs11973185	1.00[AMR][1000 genomes]
rs11974065	1.00[AMR][1000 genomes]
rs11974138	1.00[AMR][1000 genomes]
rs11974315	1.00[AMR][1000 genomes]
rs11975356	1.00[AMR][1000 genomes]
rs11976420	1.00[AMR][1000 genomes]
rs11980728	1.00[AMR][1000 genomes]
rs17142997	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs17143054	0.88[YRI][hapmap]
rs28454261	1.00[AMR][1000 genomes]
rs57584337	1.00[AMR][1000 genomes]
rs57793774	1.00[AMR][1000 genomes]
rs58101867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59049780	1.00[AMR][1000 genomes]
rs61175396	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951554	0.82[AFR][1000 genomes]
rs6953385	0.87[YRI][hapmap]
rs6953581	0.85[ASW][hapmap];0.88[YRI][hapmap]
rs6962909	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6978549	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364041	1.00[AMR][1000 genomes]
rs73364047	1.00[AMR][1000 genomes]
rs73365924	1.00[AMR][1000 genomes]
rs73365927	1.00[AMR][1000 genomes]
rs73365932	1.00[AMR][1000 genomes]
rs73365946	1.00[AMR][1000 genomes]
rs73365949	1.00[AMR][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	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	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70710400-70731800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70720600-70725000	Weak transcription	Fetal Heart	heart
3	chr7:70720800-70729000	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:70720800-70729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:70721000-70725600	Weak transcription	Left Ventricle	heart
6	chr7:70721000-70731800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:70722000-70723200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:70722400-70724000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:70722400-70725000	Weak transcription	Aorta	Aorta
10	chr7:70722600-70723400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:70722800-70723000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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