Variant report

Variant	rs73994748
Chromosome Location	chr17:63191640-63191641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63051389..63053102-chr17:63190028..63191785,2	MCF-7	breast:
2	chr17:63095618..63099183-chr17:63190147..63194248,3	MCF-7	breast:
3	chr17:63181223..63183452-chr17:63191533..63194430,3	MCF-7	breast:
4	chr17:63062132..63063680-chr17:63189934..63192725,2	K562	blood:
5	chr17:63122240..63124083-chr17:63190839..63193266,2	MCF-7	breast:
6	chr17:63183585..63187054-chr17:63190056..63193067,3	MCF-7	breast:
7	chr17:62915725..62917635-chr17:63191194..63193457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265883	Chromatin interaction
ENSG00000263470	Chromatin interaction
ENSG00000108370	Chromatin interaction
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12943735	1.00[ASN][1000 genomes]
rs17688887	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542898	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869579	0.82[EUR][1000 genomes]
rs2869580	0.82[EUR][1000 genomes]
rs2869581	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869582	0.82[EUR][1000 genomes]
rs2869583	1.00[ASN][1000 genomes]
rs2869584	0.82[EUR][1000 genomes]
rs55686226	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55904132	1.00[ASN][1000 genomes]
rs55948933	0.82[EUR][1000 genomes]
rs56269736	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59885956	1.00[ASN][1000 genomes]
rs62065135	1.00[ASN][1000 genomes]
rs7211964	1.00[ASN][1000 genomes]
rs7215502	0.82[EUR][1000 genomes]
rs73330465	1.00[ASN][1000 genomes]
rs8072505	0.83[EUR][1000 genomes]
rs8072603	0.83[EUR][1000 genomes]
rs9900568	0.81[EUR][1000 genomes]
rs9900709	0.82[EUR][1000 genomes]
rs9907146	0.82[EUR][1000 genomes]
rs9914418	0.82[EUR][1000 genomes]
rs9914790	0.82[EUR][1000 genomes]
rs9916092	0.81[EUR][1000 genomes]
rs9916373	1.00[ASN][1000 genomes]
rs9916789	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 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	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:63180600-63194800	Weak transcription	Brain Hippocampus Middle	brain
4	chr17:63181200-63192800	Weak transcription	Dnd41	blood
5	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:63182800-63192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:63184800-63197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:63187000-63194800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:63187200-63192000	Weak transcription	Brain Anterior Caudate	brain
11	chr17:63188200-63191800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:63188200-63192200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:63188600-63192800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:63188600-63193200	Weak transcription	GM12878-XiMat	blood
15	chr17:63188600-63197200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
17	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
19	chr17:63190400-63198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:63190400-63198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:63191000-63193400	Weak transcription	HSMMtube	muscle
22	chr17:63191000-63194200	Weak transcription	Gastric	stomach
23	chr17:63191000-63194800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:63191200-63198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:63191600-63192000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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