Variant report

Variant	rs73446516
Chromosome Location	chr6:45624335-45624336
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45623457..45625814-chr6:45890186..45892755,2	MCF-7	breast:
2	chr6:45623473..45625690-chr6:45627422..45630252,2	K562	blood:
3	chr6:45620998..45623947-chr6:45624058..45626263,2	K562	blood:
4	chr6:45623550..45625592-chr6:45678620..45680688,2	MCF-7	breast:
5	chr6:45615231..45620456-chr6:45620774..45624802,6	MCF-7	breast:
6	chr6:45345391..45347759-chr6:45623238..45625413,2	MCF-7	breast:
7	chr6:45389165..45392210-chr6:45621811..45625140,4	MCF-7	breast:
8	chr6:45622845..45625153-chr6:45657067..45658993,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2894642	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446537	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446576	1.00[AMR][1000 genomes]
rs73446596	1.00[AMR][1000 genomes]
rs73446602	1.00[AMR][1000 genomes]
rs73448604	1.00[AMR][1000 genomes]
rs7749622	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45615600-45626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:45617400-45627400	Enhancers	NHDF-Ad	bronchial
3	chr6:45617800-45627200	Enhancers	NHLF	lung
4	chr6:45618200-45627200	Weak transcription	Gastric	stomach
5	chr6:45618800-45627200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:45619000-45624400	Enhancers	HUVEC	blood vessel
7	chr6:45620400-45626600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:45620800-45625800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:45620800-45626400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:45621000-45625800	Weak transcription	Fetal Brain Male	brain
11	chr6:45621000-45626000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:45621400-45625400	Weak transcription	Dnd41	blood
13	chr6:45621400-45626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:45621600-45624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:45622200-45624400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:45622200-45624400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:45622200-45625000	Enhancers	HSMMtube	muscle
18	chr6:45622600-45626000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:45623200-45624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:45623200-45624400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:45623800-45624400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:45623800-45624400	Flanking Active TSS	Osteobl	bone
23	chr6:45623800-45625000	Flanking Active TSS	NH-A	brain
24	chr6:45623800-45625200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:45624000-45624400	Active TSS	A549	lung
26	chr6:45624000-45624600	Flanking Active TSS	HMEC	breast
27	chr6:45624200-45624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:45624200-45624800	Flanking Active TSS	NHEK	skin
29	chr6:45624200-45625000	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr6:45624200-45625800	Enhancers	Hela-S3	cervix

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