Variant report

Variant	rs73850054
Chromosome Location	chr4:131032498-131032499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10518565	0.81[AMR][1000 genomes]
rs11099033	0.89[ASN][1000 genomes]
rs11932792	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11932919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941757	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12499292	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12504792	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508724	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17050842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050869	0.81[AMR][1000 genomes]
rs35955852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58687831	0.81[AMR][1000 genomes]
rs59730341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73846955	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73846957	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73850055	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685504	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180207	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv595415	chr4:130983605-131046911	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv595416	chr4:130998472-131834405	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2762461	chr4:131004382-131391658	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131030000-131033200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:131030600-131032800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:131030800-131033000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:131031000-131033400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:131031400-131032800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:131031400-131033200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:131031600-131033000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:131031600-131033000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:131031800-131032600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:131031800-131033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:131032000-131032800	Enhancers	Brain Angular Gyrus	brain
12	chr4:131032200-131032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:131032200-131032800	Enhancers	Brain Hippocampus Middle	brain
14	chr4:131032400-131032800	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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