Variant report

Variant	rs7199607
Chromosome Location	chr16:12711091-12711092
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
2	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
3	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12446880	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13331176	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1469411	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1560106	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1560109	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16960249	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16960275	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17227019	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28405806	0.92[ASN][1000 genomes]
rs28676322	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28712527	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28714572	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34450403	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35694812	0.99[ASN][1000 genomes]
rs4781302	0.92[ASN][1000 genomes]
rs74011184	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74011186	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs74011187	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8051252	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs881668	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs890883	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv571469	chr16:12670401-12715480	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv18351	chr16:12674207-12734557	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2757629	chr16:12676745-12712199	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2758631	chr16:12676745-12712199	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1812058	chr16:12680270-12712059	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1051014	chr16:12683657-12722792	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1808513	chr16:12691653-12711233	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1813801	chr16:12691653-12711233	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv905351	chr16:12697211-12721188	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv471083	chr16:12704140-12714394	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv1819970	chr16:12705930-12712304	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv9352	chr16:12710044-12711193	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv960363	chr16:12710600-12725190	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv10247	chr16:12710942-12711492	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv20204	chr16:12710942-12712501	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12708000-12713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:12708400-12713600	Enhancers	HepG2	liver
3	chr16:12708600-12711200	Weak transcription	GM12878-XiMat	blood
4	chr16:12708600-12719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12708800-12712600	Weak transcription	Placenta	Placenta
6	chr16:12709000-12711200	Weak transcription	Fetal Thymus	thymus
7	chr16:12709200-12712400	Weak transcription	A549	lung
8	chr16:12709400-12713200	Weak transcription	K562	blood

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