Variant report

Variant	rs73324068
Chromosome Location	chr7:40493194-40493195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10248808	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249126	1.00[ASN][1000 genomes]
rs10269234	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281324	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17171715	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171716	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024015	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462982	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462983	1.00[ASN][1000 genomes]
rs73324073	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688099	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73689803	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73689804	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73689806	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655411	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690969	1.00[ASN][1000 genomes]
rs984367	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2757223	chr7:40384030-40497278	Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759526	chr7:40384030-40497278	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv830969	chr7:40422576-40582389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1017615	chr7:40445480-40570791	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1029342	chr7:40489083-40542933	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv5711	chr7:40490519-40512988	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40487000-40499800	Weak transcription	Aorta	Aorta
2	chr7:40487600-40494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:40492400-40493200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:40492400-40493200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:40492600-40493200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:40492600-40493200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:40492600-40493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:40492600-40493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:40492600-40493400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:40492800-40493200	Enhancers	ES-I3 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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