Variant report

Variant	rs11626348
Chromosome Location	chr14:41613936-41613937
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10133217	0.91[ASN][1000 genomes]
rs11622881	0.80[ASN][1000 genomes]
rs12894660	0.86[ASN][1000 genomes]
rs34546694	0.86[ASN][1000 genomes]
rs34961249	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36179239	1.00[AFR][1000 genomes]
rs71409980	0.86[ASN][1000 genomes]
rs71409982	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041122	chr14:40956143-41869421	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv564464	chr14:40957542-41871875	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv534448	chr14:40960013-41634431	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1038788	chr14:41216776-41647283	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542053	chr14:41216776-41647283	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv456224	chr14:41432350-42059281	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv564471	chr14:41432350-42059281	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1053254	chr14:41436749-41677315	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv542054	chr14:41436749-41677315	Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1045762	chr14:41450583-41647283	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv542055	chr14:41450583-41647283	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1047871	chr14:41516582-41647283	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
13	nsv974277	chr14:41531856-41647876	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	lncRNA	n/a	inside rSNPs	diseases
14	nsv901699	chr14:41540685-41674903	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv901701	chr14:41571738-41668334	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
16	esv2757562	chr14:41577085-41699404	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv2759981	chr14:41577085-41699404	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv901703	chr14:41579517-41751162	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv832778	chr14:41581404-41738006	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv901704	chr14:41587669-41674903	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv901705	chr14:41587669-41678466	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv901706	chr14:41587669-41803232	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv3361965	chr14:41596251-41628384	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
24	nsv564472	chr14:41599390-41658867	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
25	nsv901707	chr14:41599390-41668334	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
26	nsv901708	chr14:41599390-41670102	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
27	nsv901709	chr14:41599390-41674903	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv901710	chr14:41599390-41678466	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv901711	chr14:41601018-41658449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
30	esv2830248	chr14:41601018-41668334	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
31	nsv564473	chr14:41601018-41668334	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
32	nsv901712	chr14:41601018-41670102	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
33	nsv901713	chr14:41601018-41674903	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
34	nsv901714	chr14:41601018-41678466	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
35	nsv564474	chr14:41602007-41668334	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
36	nsv564475	chr14:41602007-41670102	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
37	esv3341833	chr14:41602251-41626151	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
38	esv3424459	chr14:41602251-41630519	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
39	nsv819212	chr14:41604134-41668334	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
40	nsv819390	chr14:41604134-41670102	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
41	nsv564476	chr14:41605556-41641506	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
42	nsv564477	chr14:41605556-41668334	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
43	nsv564478	chr14:41605556-41669205	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
44	nsv564479	chr14:41605556-41674903	Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
45	nsv564480	chr14:41605556-41678466	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
46	nsv564481	chr14:41606851-41641506	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
47	nsv901715	chr14:41606851-41651496	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
48	nsv1053958	chr14:41606851-41657337	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	lncRNA	n/a	inside rSNPs	diseases
49	nsv901716	chr14:41606851-41658449	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
50	nsv564482	chr14:41606851-41667559	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:41613600-41614800	Enhancers	HMEC	breast
4	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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