Variant report

Variant	rs17002830
Chromosome Location	chr4:78764871-78764872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78758087..78761671-chr4:78762539..78765213,4	K562	blood:
2	chr4:78753319..78755549-chr4:78763933..78765512,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1058746	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11932644	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11935318	0.90[EUR][1000 genomes]
rs11941918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11944704	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1354100	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17408624	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17409255	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17409708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17409820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17410182	0.90[EUR][1000 genomes]
rs17416711	0.90[EUR][1000 genomes]
rs17448620	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17448771	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17449827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450307	0.87[EUR][1000 genomes]
rs17450474	0.90[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1801521	0.90[EUR][1000 genomes]
rs1915587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1915588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36124924	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6810599	0.90[EUR][1000 genomes]
rs6812768	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6815466	0.90[EUR][1000 genomes]
rs6816113	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6850795	0.90[EUR][1000 genomes]
rs6853446	0.90[EUR][1000 genomes]
rs7656101	0.90[EUR][1000 genomes]
rs7657481	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7657902	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7674271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7687500	0.90[EUR][1000 genomes]
rs7699718	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78763400-78765000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:78764400-78765200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78764400-78765600	Enhancers	NHEK	skin
4	chr4:78764600-78765200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:78764600-78765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:78764600-78765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:78764600-78765400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:78764600-78765600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:78764800-78765200	Enhancers	Fetal Thymus	thymus
10	chr4:78764800-78765600	Enhancers	Primary T helper cells PMA-I stimulated	--

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