Variant report

Variant	rs7310186
Chromosome Location	chr12:86697228-86697229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10745408	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776955	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10776957	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776961	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10776966	0.96[EUR][1000 genomes]
rs10776968	0.94[EUR][1000 genomes]
rs10858409	0.93[ASN][1000 genomes]
rs10858419	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11103912	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12306280	0.86[ASN][1000 genomes]
rs1463749	0.94[EUR][1000 genomes]
rs1493415	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1493416	0.94[EUR][1000 genomes]
rs1532262	0.87[EUR][1000 genomes]
rs1552839	0.87[EUR][1000 genomes]
rs1602848	0.87[EUR][1000 genomes]
rs1602850	0.94[EUR][1000 genomes]
rs1689357	0.90[EUR][1000 genomes]
rs1698787	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1948448	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131565	0.87[EUR][1000 genomes]
rs2405930	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2405933	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2406115	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406116	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2406117	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2406118	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2406119	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2406121	0.93[ASN][1000 genomes]
rs2406122	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2406123	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452806	0.94[EUR][1000 genomes]
rs2452807	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452811	0.87[EUR][1000 genomes]
rs2452815	0.88[EUR][1000 genomes]
rs2465143	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2465144	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2465146	0.95[EUR][1000 genomes]
rs2465147	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2471560	0.86[EUR][1000 genomes]
rs2471568	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2471569	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2471570	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2897278	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4265650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334094	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4503614	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4628748	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4842483	0.96[EUR][1000 genomes]
rs6538031	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6538032	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134946	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135177	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135733	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7135741	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137308	0.94[EUR][1000 genomes]
rs7303642	0.93[ASN][1000 genomes]
rs7963957	0.88[ASN][1000 genomes]
rs7972484	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839101	0.80[EUR][1000 genomes]
rs839163	0.85[EUR][1000 genomes]
rs839164	0.85[EUR][1000 genomes]
rs839165	0.82[EUR][1000 genomes]
rs839168	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9919783	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9919793	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1843214	chr12:86673989-86703959	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv1850061	chr12:86673989-86703959	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv802	chr12:86683758-86723684	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv983491	chr12:86694812-86703018	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
14	esv2529439	chr12:86695010-86703868	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv2471686	chr12:86695246-86703977	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv819565	chr12:86695439-86703271	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv2131445	chr12:86695532-86703230	Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3490474	chr12:86695557-86703172	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3490452	chr12:86695594-86703143	Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv3490463	chr12:86695609-86703142	Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv3490496	chr12:86695621-86703419	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv3490485	chr12:86695628-86703098	Weak transcription	n/a	n/a	inside rSNPs	diseases
23	nsv826467	chr12:86695659-86703171	Weak transcription	n/a	n/a	inside rSNPs	diseases
24	nsv514678	chr12:86695677-86703029	Weak transcription	n/a	n/a	inside rSNPs	diseases
25	nsv498801	chr12:86695694-86703067	Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv3490508	chr12:86695695-86703067	Weak transcription	n/a	n/a	inside rSNPs	diseases
27	esv10267	chr12:86695700-86703035	Weak transcription	n/a	n/a	inside rSNPs	diseases
28	esv2421908	chr12:86695712-86701257	Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv559684	chr12:86695712-86702395	Weak transcription	n/a	n/a	inside rSNPs	diseases
30	esv1843781	chr12:86695712-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
31	esv1851865	chr12:86695712-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
32	nsv559685	chr12:86695712-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
33	esv1845118	chr12:86695712-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
34	esv1845447	chr12:86695712-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
35	esv1847280	chr12:86695712-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv1850693	chr12:86695712-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
37	nsv826468	chr12:86695754-86703171	Weak transcription	n/a	n/a	inside rSNPs	diseases
38	esv1847809	chr12:86696771-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
39	esv1849878	chr12:86696771-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
40	esv1850450	chr12:86696771-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
41	esv1851205	chr12:86696771-86702906	Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv1844169	chr12:86696771-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
43	esv1846755	chr12:86696771-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
44	esv1846981	chr12:86696771-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
45	esv1849750	chr12:86696771-86703959	Weak transcription	n/a	n/a	inside rSNPs	diseases
46	esv1845250	chr12:86696771-86730126	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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