Variant report

Variant	rs7256221
Chromosome Location	chr19:42211875-42211876
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
CEACAM7	TF binding region
CEACAM5	TF binding region
ENSG00000267881	TF binding region
ENSG00000268833	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402825	0.85[EUR][1000 genomes]
rs10415940	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12461373	0.82[EUR][1000 genomes]
rs12971352	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12979109	0.82[EUR][1000 genomes]
rs28683503	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34155934	0.82[EUR][1000 genomes]
rs35091611	0.83[EUR][1000 genomes]
rs3928915	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3928918	0.89[EUR][1000 genomes]
rs3928919	0.89[EUR][1000 genomes]
rs7250222	0.89[EUR][1000 genomes]
rs7256597	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7257798	1.00[CEU][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7257962	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7258524	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs7259215	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs889365	1.00[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42210800-42212000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42210800-42212000	Enhancers	Spleen	Spleen
3	chr19:42210800-42212400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr19:42211000-42212400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr19:42211000-42214200	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:42211200-42212000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr19:42211200-42212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:42211400-42212600	Weak transcription	Fetal Intestine Small	intestine
9	chr19:42211600-42212200	Enhancers	Stomach Mucosa	stomach
10	chr19:42211600-42212600	Weak transcription	Fetal Intestine Large	intestine
11	chr19:42211800-42212000	Weak transcription	Esophagus	oesophagus

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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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