Variant report

Variant	rs73349160
Chromosome Location	chr8:125848348-125848349
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125843629..125846063-chr8:125847021..125848938,2	K562	blood:
2	chr8:125832057..125834000-chr8:125846530..125849480,2	MCF-7	breast:
3	chr8:125831862..125834845-chr8:125847342..125849821,2	K562	blood:
4	chr8:125826712..125829114-chr8:125848165..125849890,2	K562	blood:
5	chr8:125826274..125829204-chr8:125846474..125849665,4	K562	blood:
6	chr8:125845588..125849228-chr8:125849730..125853632,5	MCF-7	breast:
7	chr8:125846878..125850160-chr8:125852812..125855632,3	K562	blood:
8	chr8:125841473..125844398-chr8:125845586..125849365,3	MCF-7	breast:
9	chr8:125848148..125849956-chr8:125851282..125854151,2	MCF-7	breast:
10	chr8:125847137..125849263-chr8:125851219..125853142,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263735	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6997272	1.00[EUR][1000 genomes]
rs7003427	1.00[EUR][1000 genomes]
rs73340152	1.00[EUR][1000 genomes]
rs73349127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73349175	1.00[EUR][1000 genomes]
rs7461335	1.00[EUR][1000 genomes]
rs7464660	1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125836400-125850800	Weak transcription	Right Atrium	heart
2	chr8:125845600-125849800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:125846000-125852200	Weak transcription	K562	blood
4	chr8:125846200-125848400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:125846600-125848400	Enhancers	Right Ventricle	heart
6	chr8:125846600-125850000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:125846800-125848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:125846800-125848400	Enhancers	Pancreas	Pancrea
9	chr8:125847000-125848600	Weak transcription	Placenta	Placenta
10	chr8:125847000-125852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:125847000-125853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125847200-125852400	Weak transcription	Left Ventricle	heart
13	chr8:125847200-125852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125847200-125854800	Weak transcription	Esophagus	oesophagus
15	chr8:125847200-125855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:125847400-125850600	Weak transcription	Fetal Brain Male	brain
17	chr8:125847400-125850800	Weak transcription	Fetal Brain Female	brain
18	chr8:125847400-125851200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:125847400-125851200	Weak transcription	Fetal Heart	heart
20	chr8:125847400-125854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:125847400-125854600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:125847400-125854600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:125847400-125855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:125847600-125850800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:125847600-125851200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:125847600-125852600	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:125847800-125848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:125847800-125850800	Weak transcription	Brain Germinal Matrix	brain
30	chr8:125847800-125850800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:125847800-125851200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:125847800-125851200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:125847800-125852400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:125848000-125850800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:125848200-125849200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:125848200-125849200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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