Variant report

Variant	rs73719822
Chromosome Location	chr6:4584215-4584216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4581473..4584314-chr6:4877773..4880239,2	K562	blood:
2	chr6:4317271..4319429-chr6:4582694..4584414,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11962071	0.98[ASN][1000 genomes]
rs11962707	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11963606	0.95[ASN][1000 genomes]
rs17138481	0.94[ASN][1000 genomes]
rs17138531	0.98[ASN][1000 genomes]
rs2016920	0.94[ASN][1000 genomes]
rs58440707	0.97[ASN][1000 genomes]
rs58901337	0.98[ASN][1000 genomes]
rs59123449	1.00[ASN][1000 genomes]
rs59668969	0.94[ASN][1000 genomes]
rs61626939	0.92[ASN][1000 genomes]
rs61693763	0.91[ASN][1000 genomes]
rs73359389	0.94[ASN][1000 genomes]
rs73717400	0.92[ASN][1000 genomes]
rs73719818	0.97[ASN][1000 genomes]
rs73719819	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7751465	0.92[ASN][1000 genomes]
rs7755263	0.94[ASN][1000 genomes]
rs7764506	0.94[ASN][1000 genomes]
rs7768719	0.94[ASN][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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4581600-4584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:4581600-4586200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:4581800-4584400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:4581800-4590000	Enhancers	Placenta	Placenta
5	chr6:4582200-4584400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:4582400-4595400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:4582600-4585200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:4582600-4585800	Weak transcription	Brain Substantia Nigra	brain
9	chr6:4582600-4586400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:4582600-4586400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:4582600-4586400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:4582600-4587600	Weak transcription	Left Ventricle	heart
13	chr6:4582800-4585600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:4582800-4585600	Weak transcription	Fetal Heart	heart
15	chr6:4582800-4587000	Weak transcription	Aorta	Aorta
16	chr6:4583600-4586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:4583600-4586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:4583600-4586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:4583600-4586200	Weak transcription	HMEC	breast
20	chr6:4583600-4589000	Weak transcription	Esophagus	oesophagus
21	chr6:4583800-4584400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:4583800-4585800	Weak transcription	HSMMtube	muscle
23	chr6:4583800-4586200	Weak transcription	NHEK	skin
24	chr6:4584000-4585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:4584200-4584600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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