Variant report

Variant	rs7199719
Chromosome Location	chr16:70479954-70479955
allele	C/T
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:23)

rs_ID	r²[population]
rs11860625	0.83[AFR][1000 genomes]
rs11862417	0.89[AMR][1000 genomes]
rs11863471	0.89[AMR][1000 genomes]
rs11863539	0.89[AMR][1000 genomes]
rs16970184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879236	0.87[AFR][1000 genomes]
rs17882471	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885314	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57384881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60237114	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60345847	0.89[AMR][1000 genomes]
rs60470914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199145	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs74026073	0.89[AMR][1000 genomes]
rs8049316	0.83[AFR][1000 genomes]
rs8055338	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70480600	Weak transcription	Colonic Mucosa	Colon
2	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
3	chr16:70474000-70480800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70478400-70484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:70478400-70487400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:70478800-70480400	Weak transcription	Stomach Mucosa	stomach
8	chr16:70478800-70480600	Weak transcription	K562	blood
9	chr16:70478800-70481000	Weak transcription	GM12878-XiMat	blood
10	chr16:70478800-70487400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:70479000-70480800	Weak transcription	HepG2	liver
12	chr16:70479400-70487400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:70479600-70484000	Weak transcription	Fetal Intestine Large	intestine

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Input of quick search could be:

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

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