Variant report

Variant	rs73543849
Chromosome Location	chr8:11404441-11404442
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	POLR2A	chr8:11403147-11408714	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11404313-11405759	GM12878	blood:	n/a	n/a
3	PML	chr8:11402844-11404876	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:11404335-11405761	GM12878	blood:	n/a	n/a
5	STAT5A	chr8:11404242-11404706	GM12878	blood:	n/a	n/a
6	ZNF143	chr8:11404415-11404545	GM12878	blood:	n/a	chr8:11404415-11404433
7	MTA3	chr8:11404282-11404700	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:11403039-11407221	GM18505	blood:	n/a	n/a
9	POLR2A	chr8:11403079-11408348	GM12878	blood:	n/a	n/a
10	EBF1	chr8:11403108-11404696	GM12878	blood:	n/a	chr8:11404468-11404478 chr8:11403459-11403468
11	POLR2A	chr8:11403229-11404844	GM12878	blood:	n/a	n/a
12	RUNX3	chr8:11404335-11404820	GM12878	blood:	n/a	n/a
13	ELF1	chr8:11403233-11404728	GM12878	blood:	n/a	chr8:11403361-11403373
14	POLR2A	chr8:11403003-11404951	GM12892	blood:	n/a	n/a
15	POLR2A	chr8:11402972-11405385	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:11403009-11404557	GM12878	blood:	n/a	n/a
17	MTA3	chr8:11402476-11405054	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11998211	1.00[EUR][1000 genomes]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57586616	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11400400-11404800	Weak transcription	Spleen	Spleen
3	chr8:11401200-11406400	Weak transcription	HUVEC	blood vessel
4	chr8:11403200-11404800	Enhancers	HSMM	muscle
5	chr8:11403600-11404600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:11403600-11405200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:11404000-11404800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
8	chr8:11404000-11405400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:11404000-11408400	Weak transcription	Fetal Thymus	thymus
10	chr8:11404000-11411000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:11404200-11405400	Genic enhancers	GM12878-XiMat	blood
12	chr8:11404400-11404600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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