Variant report

Variant	rs6487121
Chromosome Location	chr12:8594419-8594420
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR7E149P	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10743386	1.00[EUR][1000 genomes]
rs11045346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12810309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12810345	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826683	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12828138	1.00[EUR][1000 genomes]
rs12828882	1.00[EUR][1000 genomes]
rs6487118	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6487119	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6487120	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7956675	1.00[EUR][1000 genomes]
rs7958420	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription 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	93 gene(s)	inside rSNPs	diseases
4	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
7	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv427902	chr12:8276546-8623987	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1036525	chr12:8317823-8603777	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv557332	chr12:8321048-8598823	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv557333	chr12:8321048-8599397	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv898733	chr12:8357507-8600363	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv973015	chr12:8371568-8602961	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv1046231	chr12:8401834-8603777	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1042364	chr12:8417967-8605829	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
18	nsv508664	chr12:8450876-8604691	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv898736	chr12:8479342-8605216	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
21	esv1809025	chr12:8511575-8607833	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
22	esv2557795	chr12:8533001-8596370	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1048276	chr12:8536600-8594882	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv1046775	chr12:8536600-8596792	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv1041032	chr12:8536600-8600363	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1047915	chr12:8536600-8603777	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv598	chr12:8542677-8603512	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
28	esv17877	chr12:8544884-8601829	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv821277	chr12:8544884-8601829	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
30	nsv1046978	chr12:8552522-8594882	Enhancers Strong transcription Weak transcription	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
31	nsv1045164	chr12:8552522-8595531	Strong transcription Enhancers Weak transcription	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
32	nsv1048441	chr12:8554391-8594882	Strong transcription Weak transcription Enhancers	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
33	nsv1052842	chr12:8554391-8601982	Enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
34	nsv1041946	chr12:8556681-8594882	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
35	nsv1054776	chr12:8556681-8595531	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
36	nsv1041244	chr12:8556681-8601982	Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
37	esv1812896	chr12:8558476-8594882	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
38	nsv1045785	chr12:8558476-8594882	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
39	nsv1045231	chr12:8558476-8595531	Strong transcription Weak transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
40	nsv1047707	chr12:8558476-8596341	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
41	nsv1044079	chr12:8558476-8596792	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
42	nsv1039496	chr12:8558476-8600363	Weak transcription Enhancers Strong transcription Active TSS	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
43	nsv1049919	chr12:8558476-8601982	Active TSS Weak transcription Enhancers Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
44	nsv1045748	chr12:8558476-8602354	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
45	nsv1045232	chr12:8558476-8602970	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
46	nsv1047840	chr12:8558476-8603777	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
47	nsv1043304	chr12:8558624-8600363	Weak transcription Active TSS Strong transcription Enhancers	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
48	nsv1050975	chr12:8559093-8603777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
49	nsv557340	chr12:8560227-8595651	Weak transcription Strong transcription	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
50	nsv557341	chr12:8560227-8599397	Weak transcription Strong transcription Active TSS	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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