Variant report

Variant	rs73104963
Chromosome Location	chr1:220539887-220539888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17007598	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17007609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58541644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73104996	1.00[EUR][1000 genomes]
rs73104999	1.00[EUR][1000 genomes]
rs7529207	1.00[EUR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220531600-220542200	Weak transcription	Left Ventricle	heart
2	chr1:220536200-220541600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:220536800-220541400	Weak transcription	Osteobl	bone
4	chr1:220536800-220541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:220537000-220541600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:220537200-220541400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:220537200-220541600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:220537200-220541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:220537200-220542200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:220537600-220541600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:220537600-220541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220537800-220541000	Weak transcription	Hela-S3	cervix
15	chr1:220538200-220541600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:220538600-220541600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:220538600-220541600	Weak transcription	Right Ventricle	heart
18	chr1:220538800-220541200	Weak transcription	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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