Variant report

Variant	rs17116172
Chromosome Location	chr14:45996580-45996581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
2	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
3	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
4	chr14:45895702..45896616-chr14:45996086..45997189,11	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10142974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145394	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1266271	1.00[EUR][1000 genomes]
rs1266285	1.00[EUR][1000 genomes]
rs1613188	1.00[EUR][1000 genomes]
rs1686232	1.00[EUR][1000 genomes]
rs1686236	1.00[EUR][1000 genomes]
rs17116174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1750084	1.00[EUR][1000 genomes]
rs1750086	1.00[EUR][1000 genomes]
rs1770931	1.00[EUR][1000 genomes]
rs1957397	1.00[EUR][1000 genomes]
rs2183485	1.00[EUR][1000 genomes]
rs57795005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151112	1.00[EUR][1000 genomes]
rs7151323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151398	1.00[EUR][1000 genomes]
rs7152047	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7152379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74044190	1.00[EUR][1000 genomes]
rs74044192	1.00[EUR][1000 genomes]
rs8004089	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8004461	1.00[EUR][1000 genomes]
rs8007164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8019757	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv1052588	chr14:45753937-46003738	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1040279	chr14:45808006-46015706	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1040813	chr14:45809124-46015706	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv20419	chr14:45821203-46020734	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3693164	chr14:45822337-46008354	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv2422164	chr14:45822337-46015718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1039520	chr14:45826044-46012840	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1048492	chr14:45826044-46015706	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	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
14	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
15	esv2760341	chr14:45826056-46015718	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv442340	chr14:45826056-46015718	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv514742	chr14:45827738-46007566	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1047118	chr14:45831717-46007820	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv542081	chr14:45831717-46007820	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	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
25	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
26	nsv901849	chr14:45941995-46022500	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	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
28	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
29	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45995800-45996600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:45995800-45996800	Enhancers	Stomach Mucosa	stomach
3	chr14:45996000-45996600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:45996000-45996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:45996000-45996600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:45996000-45996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:45996000-45996600	Enhancers	Pancreas	Pancrea
10	chr14:45996000-45996600	Enhancers	HMEC	breast
11	chr14:45996200-45996600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr14:45996200-45996600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr14:45996200-45996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:45996200-45996600	Enhancers	Left Ventricle	heart
15	chr14:45996200-45996600	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr14:45996200-45996600	Flanking Active TSS	Hela-S3	cervix
17	chr14:45996400-45996600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:45996400-45996600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:45996400-45996600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:45996400-45996600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:45996400-45996600	Active TSS	Adipose Nuclei	Adipose

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