Variant report

Variant	rs12118969
Chromosome Location	chr1:189576457-189576458
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1033838	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033839	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033840	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1033841	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1033842	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10489760	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10733059	0.83[EUR][1000 genomes]
rs10754243	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10919556	0.84[EUR][1000 genomes]
rs10919607	0.83[EUR][1000 genomes]
rs10922360	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922362	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922364	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10922365	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10922443	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12127003	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12745556	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1393499	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1393500	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs155901	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs155902	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs155904	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs155916	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1566679	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976437	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1976438	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2027325	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2038651	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2772317	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2772318	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2902583	0.83[EUR][1000 genomes]
rs471394	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs472341	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs472988	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473773	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs475821	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs475908	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs476454	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs476884	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs477023	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs477876	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs478424	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs478740	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs478799	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs480025	0.83[EUR][1000 genomes]
rs480055	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs480148	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs481737	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs482865	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs486286	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487498	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs488657	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs494220	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs494497	0.87[EUR][1000 genomes]
rs501912	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs502019	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs502044	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs507655	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs509442	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs513328	0.84[EUR][1000 genomes]
rs513551	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs515441	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs515528	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs516851	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs521299	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs521702	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs523337	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs524177	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs534795	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs534896	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs537703	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs539147	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540093	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs541175	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs544343	0.80[EUR][1000 genomes]
rs545162	0.81[EUR][1000 genomes]
rs548796	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs551577	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs554431	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs554852	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs557000	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs560227	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs560685	0.87[EUR][1000 genomes]
rs562347	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs563323	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs563883	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs563908	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs564100	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs564871	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs565944	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs570816	0.87[EUR][1000 genomes]
rs571518	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs571656	0.86[EUR][1000 genomes]
rs571743	0.87[EUR][1000 genomes]
rs572342	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs573458	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs574992	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575402	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575460	0.87[EUR][1000 genomes]
rs576034	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576377	0.87[EUR][1000 genomes]
rs577137	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs577515	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579032	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579567	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs581398	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61819063	0.80[EUR][1000 genomes]
rs693683	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs695185	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7524197	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532675	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7538568	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548483	chr1:188802542-189672228	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1009962	chr1:188849003-189605507	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535232	chr1:188849003-189605507	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv999435	chr1:188997868-189849121	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1012877	chr1:189035500-189804333	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv872658	chr1:189069537-189675416	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv534452	chr1:189129332-189924389	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv872662	chr1:189211622-189741561	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv872672	chr1:189238665-189585380	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv872673	chr1:189238665-189731048	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2757763	chr1:189246533-189649328	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2758982	chr1:189246533-189649328	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv872683	chr1:189286816-189748851	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1014923	chr1:189305229-189614654	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv872696	chr1:189321018-189620278	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv523001	chr1:189350700-189600151	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv427863	chr1:189356268-189709137	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv548516	chr1:189418504-189589339	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv548517	chr1:189427759-189589339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv548518	chr1:189428501-189589339	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv999995	chr1:189429394-189582013	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv1008127	chr1:189429394-189588831	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv1012568	chr1:189429394-189594302	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv1003741	chr1:189447275-189702125	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv535241	chr1:189447275-189702125	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	nsv1010463	chr1:189488465-189612966	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1005794	chr1:189488465-190063923	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv872709	chr1:189512884-189600151	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv872710	chr1:189512884-189695297	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv1004742	chr1:189526599-189652035	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	nsv872711	chr1:189528943-189620278	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv872712	chr1:189528943-189731048	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv872713	chr1:189543576-189620278	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv872714	chr1:189543576-189636292	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv872715	chr1:189543576-189731048	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv466628	chr1:189548411-189600151	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv548522	chr1:189548411-189600151	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv825698	chr1:189551952-189577105	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv1009290	chr1:189554045-189908459	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
40	nsv497885	chr1:189562225-190086077	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	nsv872716	chr1:189568547-189736833	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189574200-189576600	Enhancers	Hela-S3	cervix
2	chr1:189574200-189577200	Enhancers	HMEC	breast
3	chr1:189575800-189576800	Enhancers	NH-A	brain
4	chr1:189575800-189578800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:189576000-189576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:189576400-189576600	Flanking Active TSS	A549	lung

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