Variant report

Variant	rs2736271
Chromosome Location	chr8:11193939-11193940
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:11193896-11194769	K562	blood:	n/a	n/a
2	GATA3	chr8:11193611-11194544	MCF-7	breast:	n/a	n/a
3	JUN	chr8:11193174-11194821	K562	blood:	n/a	n/a
4	GATA3	chr8:11193849-11194361	MCF-7	breast:	n/a	n/a
5	GATA3	chr8:11193764-11194474	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr8:11193912-11194331	T-47D	breast:	n/a	n/a
7	GATA3	chr8:11193790-11194468	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr8:11193873-11194290	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr8:11193927-11194209	T-47D	breast:	n/a	n/a
10	TEAD4	chr8:11193863-11194832	K562	blood:	n/a	n/a
11	NFIC	chr8:11193893-11194469	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr8:11193934-11194810	K562	blood:	n/a	n/a
13	CUX1	chr8:11193901-11194734	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11192721..11196103-chr8:11203012..11206655,6	MCF-7	breast:
2	chr8:11193886..11197724-chr8:11199871..11205497,8	K562	blood:
3	chr8:11182223..11183959-chr8:11192800..11194689,2	K562	blood:

No data

Variant related genes	Relation type
TDH	TF binding region
ENSG00000246477	Chromatin interaction
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1369366	1.00[AMR][1000 genomes]
rs1369367	1.00[AMR][1000 genomes]
rs1435281	0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1529855	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2043511	1.00[AMR][1000 genomes]
rs2060464	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2117614	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572396	1.00[AMR][1000 genomes]
rs2572402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2572424	1.00[AMR][1000 genomes]
rs2572425	1.00[AMR][1000 genomes]
rs2572427	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2572439	0.82[YRI][hapmap]
rs2736257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736259	1.00[AMR][1000 genomes]
rs2736260	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2736263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2736383	1.00[AMR][1000 genomes]
rs55731352	1.00[AMR][1000 genomes]
rs61251909	1.00[AMR][1000 genomes]
rs73665041	1.00[AMR][1000 genomes]
rs73665047	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs978148	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11193400-11194800	Enhancers	NHEK	skin
2	chr8:11193600-11194200	Enhancers	K562	blood
3	chr8:11193600-11194400	Enhancers	Pancreas	Pancrea
4	chr8:11193600-11194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:11193600-11194800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:11193600-11194800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:11193600-11194800	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links