Variant report

Variant	rs73056339
Chromosome Location	chr7:16171376-16171377
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	chr7:16163332..16166682-chr7:16168579..16171460,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10487915	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1527219	0.83[EUR][1000 genomes]
rs1527220	0.85[EUR][1000 genomes]
rs1527221	0.85[EUR][1000 genomes]
rs1528136	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528147	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1528149	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17285792	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17286418	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287882	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17357253	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17357511	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17358277	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359183	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359294	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17672493	0.87[EUR][1000 genomes]
rs1918259	0.85[EUR][1000 genomes]
rs1918260	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1949952	0.87[EUR][1000 genomes]
rs1978253	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2389581	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35150436	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3857708	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3857709	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4621696	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56161298	0.81[AFR][1000 genomes]
rs56290213	0.86[ASN][1000 genomes]
rs60333130	0.82[AMR][1000 genomes]
rs62439474	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62440374	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62440376	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62440849	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62440852	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62440855	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62442360	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442361	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6952865	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6961874	0.85[EUR][1000 genomes]
rs6963052	0.87[EUR][1000 genomes]
rs740823	0.86[ASN][1000 genomes]
rs7778438	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1846736	chr7:16168502-16173482	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844385	chr7:16168502-16211553	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv511373	chr7:16168708-16182966	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv3475253	chr7:16169827-16176025	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3362076	chr7:16170527-16175225	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3475254	chr7:16170952-16175300	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3448338	chr7:16170977-16175475	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv820033	chr7:16171159-16174512	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3475258	chr7:16171321-16174390	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv511950	chr7:16171351-16174471	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16169800-16183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:16170400-16171600	Enhancers	Left Ventricle	heart
3	chr7:16170400-16171600	Enhancers	Right Ventricle	heart
4	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:16170600-16171400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:16170800-16174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:16170800-16175400	Weak transcription	HSMMtube	muscle
9	chr7:16171000-16174800	Weak transcription	NHDF-Ad	bronchial

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