Variant report

Variant	rs59070487
Chromosome Location	chr5:108140580-108140581
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108061942..108064548-chr5:108139978..108142012,2	K562	blood:

Variant related genes	Relation type
ENSG00000272523	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12109934	0.84[ASN][1000 genomes]
rs4616948	0.94[ASN][1000 genomes]
rs57977516	0.92[ASN][1000 genomes]
rs6594335	0.92[ASN][1000 genomes]
rs6594337	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6871517	0.98[ASN][1000 genomes]
rs6880917	0.92[ASN][1000 genomes]
rs6883442	0.88[ASN][1000 genomes]
rs6893574	0.92[ASN][1000 genomes]
rs6893743	0.92[ASN][1000 genomes]
rs73207536	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73222017	0.92[ASN][1000 genomes]
rs73222018	0.92[ASN][1000 genomes]
rs73222019	0.92[ASN][1000 genomes]
rs73222024	0.92[ASN][1000 genomes]
rs73222036	0.94[ASN][1000 genomes]
rs7703860	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710347	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713158	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7715208	0.92[ASN][1000 genomes]
rs7723765	0.88[ASN][1000 genomes]
rs7725263	0.88[ASN][1000 genomes]
rs7734520	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv471039	chr5:108133967-108245089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:108120200-108142200	Weak transcription	Aorta	Aorta
2	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:108124200-108141600	Weak transcription	Pancreas	Pancrea
5	chr5:108124200-108141800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:108124200-108142800	Weak transcription	Ovary	ovary
7	chr5:108124600-108146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:108124800-108149400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:108133200-108146600	Weak transcription	Left Ventricle	heart
10	chr5:108133200-108146800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:108133400-108141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:108134600-108146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:108136400-108144600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:108136600-108141600	Weak transcription	Fetal Stomach	stomach
15	chr5:108137600-108141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:108137600-108146000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:108137600-108153000	Weak transcription	Osteobl	bone
18	chr5:108137800-108149000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:108138000-108153200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:108138600-108140600	ZNF genes & repeats	Fetal Lung	lung
21	chr5:108139200-108140600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr5:108139200-108141600	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr5:108139400-108140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:108139400-108142000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:108139600-108140600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:108140400-108140800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:108140400-108140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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