Variant report

Variant	rs57748335
Chromosome Location	chr16:74317232-74317233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74316224..74318585-chr16:74330462..74332814,2	K562	blood:
2	chr16:74315898..74319035-chr16:74328257..74331798,3	MCF-7	breast:
3	chr16:74316550..74318420-chr16:74320671..74323348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103035	Chromatin interaction
ENSG00000261404	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1035556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665623	1.00[AMR][1000 genomes]
rs34851911	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55691458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55860657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55889043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55956711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080833	1.00[AMR][1000 genomes]
rs56127651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56137950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56249592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57064320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57626795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59467060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60441343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60674476	1.00[AMR][1000 genomes]
rs60816175	1.00[AMR][1000 genomes]
rs60876698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187207	1.00[AMR][1000 genomes]
rs7194713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202368	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028221	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030828	0.94[AFR][1000 genomes]
rs74030830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030847	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030872	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv930993	chr16:74147464-74356710	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1058208	chr16:74160074-74359324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056525	chr16:74186756-74356711	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv542955	chr16:74186756-74356711	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1055180	chr16:74189820-74359324	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv917046	chr16:74202828-74406136	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv833276	chr16:74216065-74438868	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv1066333	chr16:74228790-74323927	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74310400-74329000	Weak transcription	Thymus	Thymus
2	chr16:74315600-74317400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:74316200-74329600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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