Variant report

Variant	rs12172838
Chromosome Location	chr16:12670998-12670999
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	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10609	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs1075842	0.90[EUR][1000 genomes]
rs1075843	0.90[EUR][1000 genomes]
rs10852352	0.87[ASN][1000 genomes]
rs10852353	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075099	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639610	0.82[EUR][1000 genomes]
rs11640384	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs11643626	0.92[EUR][1000 genomes]
rs11643633	0.92[EUR][1000 genomes]
rs11644642	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11644685	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11644936	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs11645971	0.82[EUR][1000 genomes]
rs11646289	0.84[EUR][1000 genomes]
rs12172837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477	0.94[EUR][1000 genomes]
rs12708750	0.84[EUR][1000 genomes]
rs12708751	0.84[EUR][1000 genomes]
rs12918207	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918473	0.80[EUR][1000 genomes]
rs12918587	0.80[EUR][1000 genomes]
rs12918728	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918863	0.84[EUR][1000 genomes]
rs12918996	0.84[EUR][1000 genomes]
rs12919644	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12919819	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12927563	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs12928426	0.92[EUR][1000 genomes]
rs12930904	0.80[EUR][1000 genomes]
rs12932392	0.82[EUR][1000 genomes]
rs12932393	0.82[EUR][1000 genomes]
rs1465560	0.84[EUR][1000 genomes]
rs1465561	0.84[EUR][1000 genomes]
rs1465564	0.82[EUR][1000 genomes]
rs1560116	0.84[EUR][1000 genomes]
rs1864024	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2081896	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2288422	0.91[EUR][1000 genomes]
rs2288423	0.91[EUR][1000 genomes]
rs3169265	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs3169266	0.94[EUR][1000 genomes]
rs3169267	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs34352915	0.92[EUR][1000 genomes]
rs34696585	0.80[EUR][1000 genomes]
rs35272133	0.83[EUR][1000 genomes]
rs35804561	0.90[EUR][1000 genomes]
rs36121403	0.90[EUR][1000 genomes]
rs36172473	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3803604	0.88[CEU][hapmap]
rs3803605	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3803607	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3803610	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3803614	0.94[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs3826099	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3826100	0.94[CEU][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs3826101	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3826102	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs3826105	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes]
rs3929069	0.82[EUR][1000 genomes]
rs4781267	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4781270	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4781271	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4781274	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60215082	0.90[EUR][1000 genomes]
rs7198820	0.83[EUR][1000 genomes]
rs745161	0.92[EUR][1000 genomes]
rs745829	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs7619	0.94[EUR][1000 genomes]
rs7620	0.94[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs890896	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs890897	0.94[CEU][hapmap]
rs890899	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9923566	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9929137	0.80[EUR][1000 genomes]
rs9929150	0.80[EUR][1000 genomes]
rs9937634	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938255	0.80[EUR][1000 genomes]
rs9938512	0.81[EUR][1000 genomes]
rs9939198	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1049011	chr16:12655176-12672143	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv9349	chr16:12656022-12674639	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv437802	chr16:12667076-12708294	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv571466	chr16:12667647-12672258	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv517039	chr16:12667647-12673394	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv457412	chr16:12668632-12672340	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv571467	chr16:12668632-12672340	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv457413	chr16:12669335-12672862	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv571468	chr16:12669335-12672862	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv523735	chr16:12669335-12675847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
20	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
2	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
4	chr16:12668600-12671000	Weak transcription	HepG2	liver
5	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
6	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
8	chr16:12670600-12671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:12670600-12671000	Enhancers	Gastric	stomach
10	chr16:12670600-12671000	Enhancers	Spleen	Spleen
11	chr16:12670800-12671000	ZNF genes & repeats	Pancreas	Pancrea
12	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood

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