Variant report

Variant	rs2415894
Chromosome Location	chr14:46023031-46023032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11844243	1.00[EUR][1000 genomes]
rs11844315	1.00[EUR][1000 genomes]
rs11847078	1.00[EUR][1000 genomes]
rs17116058	1.00[EUR][1000 genomes]
rs17116131	1.00[EUR][1000 genomes]
rs55668330	1.00[EUR][1000 genomes]
rs55775129	1.00[EUR][1000 genomes]
rs56103035	1.00[EUR][1000 genomes]
rs56240016	1.00[EUR][1000 genomes]
rs59233651	1.00[EUR][1000 genomes]
rs59240854	1.00[EUR][1000 genomes]
rs59349842	1.00[EUR][1000 genomes]
rs60079451	0.87[AFR][1000 genomes]
rs6572298	1.00[EUR][1000 genomes]
rs6572299	1.00[EUR][1000 genomes]
rs66551762	1.00[EUR][1000 genomes]
rs66646178	1.00[EUR][1000 genomes]
rs66653751	1.00[EUR][1000 genomes]
rs67237533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67576189	1.00[EUR][1000 genomes]
rs67691112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67796766	1.00[EUR][1000 genomes]
rs67806564	1.00[EUR][1000 genomes]
rs67831889	1.00[EUR][1000 genomes]
rs67847674	1.00[EUR][1000 genomes]
rs7147321	1.00[EUR][1000 genomes]
rs7149485	1.00[EUR][1000 genomes]
rs7149648	1.00[EUR][1000 genomes]
rs7149874	1.00[EUR][1000 genomes]
rs7149940	1.00[EUR][1000 genomes]
rs7151276	1.00[EUR][1000 genomes]
rs7151829	1.00[EUR][1000 genomes]
rs7155417	1.00[EUR][1000 genomes]
rs7159397	1.00[EUR][1000 genomes]
rs7159881	1.00[EUR][1000 genomes]
rs72674956	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8007123	1.00[EUR][1000 genomes]
rs8007584	1.00[EUR][1000 genomes]
rs8012488	1.00[EUR][1000 genomes]
rs8014897	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8019288	1.00[EUR][1000 genomes]
rs9919896	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1042444	chr14:45826044-46023935	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1043014	chr14:45826044-46024979	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1049898	chr14:45831717-46035912	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv542082	chr14:45831717-46035912	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2422441	chr14:45848850-46325684	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv901848	chr14:45932515-46024675	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1035463	chr14:45940562-46201777	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv542083	chr14:45940562-46201777	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1036815	chr14:45957602-46051628	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv976289	chr14:45973774-46282154	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv901850	chr14:45994633-46081072	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1044871	chr14:46007760-46432325	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46021400-46023800	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:46021800-46024600	Enhancers	Colon Smooth Muscle	Colon
3	chr14:46022000-46023800	Enhancers	Fetal Heart	heart
4	chr14:46022400-46023200	Enhancers	Stomach Smooth Muscle	stomach
5	chr14:46022600-46023400	Weak transcription	Rectal Mucosa Donor 31	rectum

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