Variant report

Variant	rs73785580
Chromosome Location	chr5:126655361-126655362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17165043	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17165060	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17165082	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17165102	0.85[ASN][1000 genomes]
rs17165103	0.85[ASN][1000 genomes]
rs17839697	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2032833	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2898042	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56084567	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56169866	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57623356	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73785574	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73785576	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702573	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr5:126648000-126674800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126648200-126655800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:126648200-126655800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:126648400-126655400	Weak transcription	HSMMtube	muscle
5	chr5:126648400-126655600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126648400-126655600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:126648400-126655800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:126648800-126655400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:126648800-126655800	Weak transcription	HSMM	muscle
10	chr5:126649000-126655800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:126650000-126655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:126650200-126655400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:126650200-126655600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:126650600-126656000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:126650800-126655400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:126652000-126655400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:126652000-126655600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:126652000-126656200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:126652000-126656200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:126652000-126657400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:126652400-126656000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126654600-126655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:126655200-126655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:126655200-126656600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:126655200-126658400	Enhancers	H9 Cell Line	embryonic stem cell

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