Variant report

Variant	rs74028219
Chromosome Location	chr16:74326257-74326258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr16:74325593-74326259	PBDE	blood:	n/a	n/a
2	FOS	chr16:74324941-74326285	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr16:74325192-74326322	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr16:74325509-74326270	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PSMD7	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035556	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665623	1.00[AMR][1000 genomes]
rs34851911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55691458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788378	1.00[AMR][1000 genomes]
rs55860657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55889043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55956711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080833	1.00[AMR][1000 genomes]
rs56127651	1.00[AMR][1000 genomes]
rs56137950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56249592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57064320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57626795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57748335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59467060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60441343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60674476	1.00[AMR][1000 genomes]
rs60816175	1.00[AMR][1000 genomes]
rs60876698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187207	1.00[AMR][1000 genomes]
rs7194713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028223	1.00[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028237	0.94[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030847	1.00[AMR][1000 genomes]
rs74030854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047786	0.94[AFR][1000 genomes];1.00[AMR][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	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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74310400-74329000	Weak transcription	Thymus	Thymus
2	chr16:74316200-74329600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:74323600-74327800	Enhancers	Liver	Liver
4	chr16:74324200-74327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:74325000-74326600	Enhancers	HMEC	breast
6	chr16:74325000-74327000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:74325000-74327200	Enhancers	NHEK	skin
8	chr16:74325200-74326600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:74325200-74329400	Weak transcription	Pancreas	Pancrea
10	chr16:74325400-74326400	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr16:74325400-74329200	Weak transcription	Primary T cells from cord blood	blood
12	chr16:74325600-74329000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:74325800-74326400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:74325800-74329000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:74326000-74326600	Weak transcription	Aorta	Aorta
16	chr16:74326000-74329000	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:74326000-74329400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:74326000-74329400	Weak transcription	Psoas Muscle	Psoas
19	chr16:74326000-74329400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr16:74326000-74329400	Weak transcription	Right Atrium	heart
21	chr16:74326000-74329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:74326000-74329600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:74326000-74329600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr16:74326200-74328400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:74326200-74329000	Weak transcription	K562	blood
26	chr16:74326200-74329400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:74326200-74330000	Weak transcription	Lung	lung

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