Variant report

Variant	rs55950265
Chromosome Location	chr12:30242048-30242049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11050644	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55791020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56067927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59780129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080504	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74080505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080507	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080510	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74080512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74083036	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7972781	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv557980	chr12:30229583-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv557981	chr12:30229606-30243473	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv557982	chr12:30233450-30242303	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv557983	chr12:30233450-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
9	nsv557984	chr12:30233898-30242877	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv557985	chr12:30233898-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv2760246	chr12:30235279-30244326	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv2760866	chr12:30235279-30244780	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3525816	chr12:30236535-30244533	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv973986	chr12:30237049-30243977	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv3485162	chr12:30237112-30243673	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv8932	chr12:30237115-30243678	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3382930	chr12:30237138-30243655	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
18	esv3525817	chr12:30237159-30243608	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
19	esv3485140	chr12:30237163-30243636	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv3485151	chr12:30237168-30243639	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
21	esv3485129	chr12:30237179-30243592	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
22	esv18261	chr12:30237233-30243568	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
23	esv3485174	chr12:30237246-30243567	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
24	esv3525819	chr12:30237246-30243567	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
25	nsv826296	chr12:30237254-30243482	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
26	nsv557989	chr12:30237344-30242303	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
27	nsv557990	chr12:30237344-30242877	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
28	nsv557991	chr12:30237344-30243473	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
29	nsv557992	chr12:30237344-30243631	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
30	esv3584651	chr12:30237497-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
31	nsv442641	chr12:30237501-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv826297	chr12:30237546-30243482	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv514662	chr12:30237649-30243373	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
34	esv3500474	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
35	esv3500485	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv557994	chr12:30237821-30242877	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
37	nsv557995	chr12:30237821-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
38	nsv557996	chr12:30238055-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
39	nsv557997	chr12:30238371-30243473	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
40	nsv557998	chr12:30238868-30242303	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
41	nsv557999	chr12:30238868-30242877	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
42	nsv558000	chr12:30238868-30243473	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
43	nsv558001	chr12:30239419-30242877	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv558002	chr12:30239419-30243473	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
45	nsv558003	chr12:30239591-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
46	esv33466	chr12:30240075-30246179	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
47	nsv528183	chr12:30240765-30245104	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach

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