Variant report

Variant	rs987066
Chromosome Location	chr19:42256748-42256749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42255195-42260167	A549	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
2	CTCF	chr19:42256660-42256810	GM12869	blood:	n/a	n/a
3	CTCF	chr19:42256600-42256750	AG09309	skin:	n/a	n/a
4	CTCF	chr19:42256600-42256750	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
2	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
3	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
4	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
5	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000268833	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10403308	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10406899	0.84[ASN][1000 genomes]
rs10408799	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10411488	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10412553	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10414063	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10415317	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10415946	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417322	0.83[ASN][1000 genomes]
rs10421687	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10425443	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083637	0.82[ASN][1000 genomes]
rs1115885	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11667651	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11672324	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11878239	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11878262	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11881921	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12973096	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985771	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1593086	0.83[ASN][1000 genomes]
rs2002926	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2113133	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2113134	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2161625	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3764577	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764579	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829668	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239514	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802128	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802129	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802130	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803503	0.84[ASN][1000 genomes]
rs4803505	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803506	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55997514	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7252828	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255070	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs748249	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8106723	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv911774	chr19:42250325-42288821	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3384883	chr19:42253458-42288853	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr19:42254400-42256800	Enhancers	Pancreas	Pancrea
2	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:42254600-42258000	Enhancers	Stomach Mucosa	stomach
4	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
5	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
6	chr19:42255400-42257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr19:42256000-42257000	Enhancers	Colon Smooth Muscle	Colon
10	chr19:42256000-42257000	Enhancers	Gastric	stomach
11	chr19:42256200-42257000	Enhancers	Esophagus	oesophagus
12	chr19:42256400-42258400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:42256600-42257200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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