Variant report

Variant	rs12100748
Chromosome Location	chr14:80113995-80113996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10147137	0.88[AFR][1000 genomes]
rs57934289	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs60570231	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61296059	0.88[AMR][1000 genomes]
rs8021855	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1834615	chr14:80098883-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1838840	chr14:80098883-80114863	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv511536	chr14:80098883-80115560	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3359313	chr14:80101248-80115879	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv1370	chr14:80103510-80121890	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv565249	chr14:80104576-80114558	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv565250	chr14:80104576-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv990270	chr14:80105013-80115340	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv3515654	chr14:80105199-80116147	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv3515649	chr14:80105549-80116047	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv820296	chr14:80105679-80115419	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv3530291	chr14:80105821-80115300	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
16	esv1802815	chr14:80105979-80114469	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
17	esv1815863	chr14:80105979-80114469	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
18	esv1831443	chr14:80105979-80114469	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
19	esv3515657	chr14:80106078-80115365	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv1792559	chr14:80106132-80114669	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
21	esv1799895	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
22	esv1805116	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
23	esv1808779	chr14:80106132-80114669	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
24	esv1815397	chr14:80106132-80114669	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
25	esv1821052	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
26	esv1827093	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
27	esv1832900	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
28	esv1842849	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
29	esv1851659	chr14:80106132-80114669	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
30	nsv514754	chr14:80106135-80114527	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
31	nsv512366	chr14:80106136-80115439	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
32	esv3530293	chr14:80106154-80115158	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv827004	chr14:80106159-80115086	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
34	esv3515658	chr14:80106189-80115166	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
35	esv3515653	chr14:80106194-80115146	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
36	esv3530288	chr14:80106203-80115125	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
37	esv3515656	chr14:80106204-80115088	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
38	esv3530289	chr14:80106210-80115123	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv820615	chr14:80106214-80115086	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
40	esv3530290	chr14:80106224-80115077	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
41	esv3515651	chr14:80106232-80115101	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv3515655	chr14:80106239-80115105	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
43	nsv827005	chr14:80106266-80114669	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
44	esv3530287	chr14:80106275-80115054	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
45	esv19789	chr14:80106280-80114993	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
46	esv1801742	chr14:80106284-80114469	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
47	esv1810310	chr14:80106284-80114469	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
48	esv1813243	chr14:80106284-80114469	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
49	esv1821796	chr14:80106284-80114469	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
50	esv1830993	chr14:80106284-80114469	Enhancers Weak transcription 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	chr14:80110000-80114600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:80113400-80114400	Weak transcription	Colon Smooth Muscle	Colon

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