Variant report

Variant	rs13411851
Chromosome Location	chr2:112805217-112805218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112687420..112689680-chr2:112803125..112805522,2	MCF-7	breast:
2	chr2:112640171..112645410-chr2:112802081..112806839,5	MCF-7	breast:
3	chr2:112804262..112806076-chr2:112808977..112811892,2	K562	blood:

Variant related genes	Relation type
ENSG00000240183	Chromatin interaction
ENSG00000153107	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165940	0.90[EUR][1000 genomes]
rs10168067	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	1.00[ASN][1000 genomes]
rs10171359	1.00[ASN][1000 genomes]
rs10172310	1.00[ASN][1000 genomes]
rs10175344	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179948	0.88[AFR][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10180086	0.90[EUR][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182931	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10190471	0.90[EUR][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[ASN][1000 genomes]
rs10204243	1.00[ASN][1000 genomes]
rs10204653	1.00[ASN][1000 genomes]
rs10205793	0.90[EUR][1000 genomes]
rs10206255	1.00[ASN][1000 genomes]
rs10211152	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387346	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13391959	1.00[ASN][1000 genomes]
rs13394094	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396030	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13401258	1.00[ASN][1000 genomes]
rs13402707	0.90[EUR][1000 genomes]
rs13412743	1.00[ASN][1000 genomes]
rs13416895	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASN][1000 genomes]
rs13421261	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[ASN][1000 genomes]
rs2230517	0.90[EUR][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs6705046	1.00[ASN][1000 genomes]
rs6723289	0.90[EUR][1000 genomes]
rs6723394	0.90[EUR][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs6735717	0.90[EUR][1000 genomes]
rs72825696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829658	1.00[ASN][1000 genomes]
rs72943913	1.00[ASN][1000 genomes]
rs9631022	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv979100	chr2:112792445-112806085	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112803200-112811200	Weak transcription	Fetal Stomach	stomach
2	chr2:112804000-112805400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:112804400-112811000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:112804600-112811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:112805000-112805400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:112805000-112805400	Enhancers	Fetal Heart	heart
7	chr2:112805000-112805400	Enhancers	Pancreas	Pancrea
8	chr2:112805000-112805600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:112805000-112805600	Enhancers	Aorta	Aorta
10	chr2:112805000-112805600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:112805000-112805600	Enhancers	Right Ventricle	heart
12	chr2:112805000-112806200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:112805000-112806200	Enhancers	Fetal Intestine Small	intestine
14	chr2:112805200-112805400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:112805200-112805400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:112805200-112805600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:112805200-112805600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:112805200-112805600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:112805200-112805600	Enhancers	Gastric	stomach
20	chr2:112805200-112806000	Enhancers	Right Atrium	heart
21	chr2:112805200-112806200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:112805200-112806400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:112805200-112806400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:112805200-112806400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:112805200-112806400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:112805200-112806400	Enhancers	Fetal Intestine Large	intestine
27	chr2:112805200-112806400	Flanking Active TSS	HepG2	liver
28	chr2:112805200-112806400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links