Variant report

Variant	rs12469348
Chromosome Location	chr2:48855069-48855070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10201719	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10204790	1.00[ASW][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10495954	1.00[TSI][hapmap]
rs10865233	0.83[AFR][1000 genomes]
rs11884585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885924	0.83[AFR][1000 genomes]
rs11890355	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12466526	0.81[ASW][hapmap];0.80[MKK][hapmap]
rs12468825	0.81[ASW][hapmap]
rs12470652	1.00[TSI][hapmap]
rs12470838	0.83[EUR][1000 genomes]
rs12471874	0.80[EUR][1000 genomes]
rs12713012	0.80[LWK][hapmap]
rs13396590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401159	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1464728	0.81[ASW][hapmap]
rs1524158	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1524159	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1554613	0.90[ASW][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35362799	0.81[AFR][1000 genomes]
rs3792240	0.82[AFR][1000 genomes]
rs4953611	0.81[ASW][hapmap]
rs6747134	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7600182	0.82[AFR][1000 genomes]
rs7605031	0.81[AFR][1000 genomes]
rs9808503	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv874004	chr2:48838955-48904550	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2762553	chr2:48843520-48863842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv2719	chr2:48847455-48867113	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1815803	chr2:48848295-48870365	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3460123	chr2:48850048-48855346	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3460124	chr2:48850048-48855346	ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1794319	chr2:48850299-48857596	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1820153	chr2:48850299-48857596	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1821712	chr2:48850299-48857596	Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv1820502	chr2:48850299-48873662	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv991713	chr2:48850854-48860552	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
22	esv3457668	chr2:48851056-48858060	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
23	esv3457671	chr2:48851112-48858026	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
24	esv3457670	chr2:48851113-48857985	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
25	esv3457669	chr2:48851119-48858038	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv3457667	chr2:48851177-48857957	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
27	esv3457672	chr2:48851191-48857955	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
28	esv19846	chr2:48851209-48857846	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	esv1794079	chr2:48851247-48857596	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
30	esv1796666	chr2:48851247-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	esv1801149	chr2:48851247-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
32	esv1801305	chr2:48851247-48857596	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
33	esv1818594	chr2:48851247-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
34	esv1818918	chr2:48851247-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
35	esv1823752	chr2:48851247-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
36	esv1798331	chr2:48851247-48873662	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv581778	chr2:48851820-48856204	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
38	esv1816800	chr2:48851820-48856770	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
39	nsv581779	chr2:48851820-48856770	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
40	esv1817945	chr2:48851820-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
41	esv1821553	chr2:48851820-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
42	nsv581780	chr2:48851820-48857596	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
43	esv1797398	chr2:48851820-48870365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
44	esv1821282	chr2:48851820-48870365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
45	nsv581782	chr2:48852306-48857596	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
46	esv3460125	chr2:48852848-48857346	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
47	esv3460126	chr2:48852848-48857346	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
48	nsv581784	chr2:48853134-48856770	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
49	nsv581785	chr2:48853134-48857596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
50	nsv581786	chr2:48853499-48856770	Weak transcription ZNF genes & repeats	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	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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