Variant report

Variant	rs73932087
Chromosome Location	chr19:42256950-42256951
allele	C/T
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	chr19:42256938-42257035	GM13977	blood:	n/a	n/a
2	CTCF	chr19:42256840-42256990	SAEC	small airway:	n/a	n/a
3	CTCF	chr19:42256918-42257030	K562	blood:	n/a	n/a
4	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
5	CTCF	chr19:42256884-42257570	SK-N-SH	brain:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
6	CTCF	chr19:42256900-42257050	GM12866	blood:	n/a	n/a
7	CTCF	chr19:42256900-42257050	GM12870	blood:	n/a	n/a
8	CTCF	chr19:42256920-42257070	AG04449	skin:	n/a	n/a
9	CTCF	chr19:42256860-42257010	WI-38	lung:	n/a	n/a
10	CTCF	chr19:42256907-42257661	HCT-116	colon:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293

No.	Distal block	Cell Line	Cell type
1	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
2	chr19:42214835..42216861-chr19:42256777..42258757,2	MCF-7	breast:
3	chr19:42210733..42211670-chr19:42256878..42258361,4	K562	blood:
4	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
5	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
6	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
7	chr19:42256816..42257733-chr19:42462027..42462557,2	K562	blood:
8	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
9	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
10	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000268833	Chromatin interaction
ENSG00000007306	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56777717	1.00[AMR][1000 genomes]
rs58127675	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59623589	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59675676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6508994	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6508995	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249202	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249254	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249385	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249444	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257822	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932050	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932052	1.00[AMR][1000 genomes]
rs73932056	1.00[AMR][1000 genomes]
rs73932057	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932065	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932066	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932080	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9749010	1.00[AFR][1000 genomes];1.00[AMR][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	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42254600-42258000	Enhancers	Stomach Mucosa	stomach
3	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
4	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
5	chr19:42255400-42257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:42256000-42257000	Enhancers	Colon Smooth Muscle	Colon
9	chr19:42256000-42257000	Enhancers	Gastric	stomach
10	chr19:42256200-42257000	Enhancers	Esophagus	oesophagus
11	chr19:42256400-42258400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr19:42256600-42257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:42256800-42257800	Weak transcription	Pancreas	Pancrea

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