Variant report

Variant	rs16941923
Chromosome Location	chr17:45445177-45445178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45422002..45424871-chr17:45443232..45445313,2	MCF-7	breast:
2	chr17:45443966..45446911-chr17:45490626..45492639,2	K562	blood:
3	chr17:45443966..45446911-chr17:45490507..45492639,3	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10514925	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs10514928	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10514929	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11867160	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11867516	0.93[AFR][1000 genomes]
rs11868143	0.93[AFR][1000 genomes]
rs11868497	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11868609	0.93[AFR][1000 genomes]
rs11868623	0.87[AFR][1000 genomes]
rs11869248	0.93[AFR][1000 genomes]
rs11869846	0.93[AFR][1000 genomes]
rs11870833	0.83[AFR][1000 genomes]
rs11871153	0.93[AFR][1000 genomes]
rs11871288	0.86[AFR][1000 genomes]
rs12051795	0.82[YRI][hapmap]
rs16941928	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs1996521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2125872	0.87[AFR][1000 genomes]
rs2136752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136755	0.83[YRI][hapmap];0.93[AFR][1000 genomes]
rs2175287	0.93[AFR][1000 genomes]
rs2175288	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292343	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292345	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292348	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2305940	0.87[AFR][1000 genomes]
rs2317675	0.87[AFR][1000 genomes]
rs28641090	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35556231	0.93[AFR][1000 genomes]
rs3736439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736440	0.93[AFR][1000 genomes]
rs3752864	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3883317	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3883318	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3956021	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4284698	0.93[AFR][1000 genomes]
rs4305137	0.90[EUR][1000 genomes]
rs4494612	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs55641990	0.90[AFR][1000 genomes]
rs55645384	0.93[AFR][1000 genomes]
rs55677939	0.95[EUR][1000 genomes]
rs55693255	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55756546	0.93[AFR][1000 genomes]
rs55853213	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55873123	0.93[AFR][1000 genomes]
rs55879010	0.93[AFR][1000 genomes]
rs55916275	0.93[AFR][1000 genomes]
rs56089045	0.93[AFR][1000 genomes]
rs56195427	0.95[EUR][1000 genomes]
rs57303096	0.81[EUR][1000 genomes]
rs57517411	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57711420	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58221919	0.95[EUR][1000 genomes]
rs58568239	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58988897	0.93[AFR][1000 genomes]
rs59134940	0.87[AFR][1000 genomes]
rs59376508	0.90[EUR][1000 genomes]
rs59437802	0.93[AFR][1000 genomes]
rs59512479	0.90[EUR][1000 genomes]
rs59769748	0.93[AFR][1000 genomes]
rs59850765	0.90[EUR][1000 genomes]
rs59851684	0.87[AFR][1000 genomes]
rs60843765	0.90[EUR][1000 genomes]
rs61097898	0.93[AFR][1000 genomes]
rs61219318	0.95[EUR][1000 genomes]
rs71141906	0.84[EUR][1000 genomes]
rs72825640	0.95[EUR][1000 genomes]
rs72825642	0.95[EUR][1000 genomes]
rs72825645	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825648	0.95[EUR][1000 genomes]
rs72825655	0.93[AFR][1000 genomes]
rs72825656	0.93[AFR][1000 genomes]
rs72825658	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825661	0.93[AFR][1000 genomes]
rs72825663	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825665	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825666	0.87[AFR][1000 genomes]
rs72825679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825681	0.93[AFR][1000 genomes]
rs72825683	0.93[AFR][1000 genomes]
rs72825685	0.97[EUR][1000 genomes]
rs72825686	0.90[AFR][1000 genomes]
rs72825688	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825690	0.90[AFR][1000 genomes]
rs72825691	0.93[AFR][1000 genomes]
rs72825692	0.93[AFR][1000 genomes]
rs72825694	0.93[AFR][1000 genomes]
rs72829614	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72829615	0.93[AFR][1000 genomes]
rs72829616	0.97[EUR][1000 genomes]
rs72829618	0.93[AFR][1000 genomes]
rs72829619	0.93[AFR][1000 genomes]
rs72829623	0.93[AFR][1000 genomes]
rs72829624	0.95[EUR][1000 genomes]
rs72829627	0.95[EUR][1000 genomes]
rs72829628	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72829629	0.93[AFR][1000 genomes]
rs72829631	0.95[EUR][1000 genomes]
rs72829632	0.95[EUR][1000 genomes]
rs72829633	0.95[EUR][1000 genomes]
rs72829634	0.95[EUR][1000 genomes]
rs72829636	0.93[AFR][1000 genomes]
rs72829640	0.93[AFR][1000 genomes]
rs72829641	0.95[EUR][1000 genomes]
rs72829642	0.93[AFR][1000 genomes]
rs72829644	0.90[AFR][1000 genomes]
rs72829645	0.93[AFR][1000 genomes]
rs72829651	0.93[AFR][1000 genomes]
rs72829659	0.88[EUR][1000 genomes]
rs72829661	0.87[AFR][1000 genomes]
rs72829670	0.90[EUR][1000 genomes]
rs72829671	0.90[EUR][1000 genomes]
rs7501838	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs8077042	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1061628	chr17:45444530-45491469	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543379	chr17:45444530-45491469	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
3	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
4	chr17:45412400-45463400	Weak transcription	Gastric	stomach
5	chr17:45413400-45463800	Weak transcription	Ovary	ovary
6	chr17:45421800-45449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:45423000-45450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:45423000-45465400	Weak transcription	Adipose Nuclei	Adipose
9	chr17:45423200-45450000	Weak transcription	Primary B cells from cord blood	blood
10	chr17:45435000-45463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:45435200-45447600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:45435400-45449600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:45440600-45457200	Weak transcription	Fetal Intestine Small	intestine
14	chr17:45440800-45449400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:45440800-45449800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:45442600-45449400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr17:45442800-45449800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:45444600-45445400	Enhancers	Esophagus	oesophagus

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