Variant report

Variant	rs72829697
Chromosome Location	chr2:112891221-112891222
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	CEBPB	chr2:112890918-112891230	HepG2	liver:	n/a	chr2:112890969-112890980 chr2:112890969-112890980
2	RCOR1	chr2:112890994-112891265	K562	blood:	n/a	n/a
3	RCOR1	chr2:112891107-112891934	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:112890859..112893209-chr2:112893604..112895131,2	MCF-7	breast:
2	chr2:112889865..112891501-chr2:112893730..112896159,2	K562	blood:
3	chr2:112890338..112892792-chr2:112906621..112908750,2	MCF-7	breast:

Variant related genes	Relation type
FBLN7	TF binding region
ENSG00000144152	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10166396	1.00[ASN][1000 genomes]
rs10170258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10171359	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10172310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174680	1.00[ASN][1000 genomes]
rs10175752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10183003	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190845	1.00[ASN][1000 genomes]
rs10201041	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10202871	1.00[ASN][1000 genomes]
rs10204140	0.88[AFR][1000 genomes]
rs10204243	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10204653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204929	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206255	0.88[AFR][1000 genomes]
rs1317633	1.00[ASN][1000 genomes]
rs13391959	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13401258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13412743	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13418394	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13431260	0.88[AFR][1000 genomes]
rs17041977	1.00[ASN][1000 genomes]
rs2312695	1.00[ASN][1000 genomes]
rs35586251	1.00[ASN][1000 genomes]
rs4849052	1.00[ASN][1000 genomes]
rs55958600	1.00[ASN][1000 genomes]
rs56090586	1.00[ASN][1000 genomes]
rs56106340	1.00[ASN][1000 genomes]
rs56166956	1.00[ASN][1000 genomes]
rs66470738	1.00[ASN][1000 genomes]
rs72829658	0.88[AFR][1000 genomes]
rs72831604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831605	1.00[ASN][1000 genomes]
rs72831609	1.00[ASN][1000 genomes]
rs72831611	1.00[ASN][1000 genomes]
rs72831613	1.00[ASN][1000 genomes]
rs72831616	1.00[ASN][1000 genomes]
rs72831617	1.00[ASN][1000 genomes]
rs72831618	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112870400-112895000	Weak transcription	HMEC	breast
2	chr2:112870400-112895200	Weak transcription	Gastric	stomach
3	chr2:112875600-112891400	Weak transcription	HepG2	liver
4	chr2:112876000-112893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:112876000-112895000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:112876000-112895000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:112876000-112895000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:112880400-112893400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:112880400-112895000	Weak transcription	Pancreas	Pancrea
10	chr2:112881400-112895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:112890600-112895400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:112890800-112895000	Weak transcription	Primary hematopoietic stem cells	blood

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