Variant report

Variant	rs13254325
Chromosome Location	chr8:11410513-11410514
allele	A/C
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	chr8:11410400-11410629	GM19239	blood:	n/a	n/a
2	POLR2A	chr8:11410323-11410588	GM12878	blood:	n/a	n/a
3	SUZ12	chr8:11410389-11410660	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:11410187-11410768	GM12878	blood:	n/a	n/a
5	MAX	chr8:11410416-11410720	A549	lung:	n/a	chr8:11410548-11410558 chr8:11410573-11410588 chr8:11410502-11410512 chr8:11410577-11410584
6	USF2	chr8:11410513-11410565	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr8:11410336-11410672	NB4	blood:	n/a	chr8:11410548-11410558 chr8:11410573-11410588 chr8:11410502-11410512 chr8:11410577-11410584
8	POLR2A	chr8:11410067-11410823	GM12892	blood:	n/a	n/a
9	POLR2A	chr8:11410308-11410771	GM12891	blood:	n/a	n/a
10	POLR2A	chr8:11410232-11410632	GM12892	blood:	n/a	n/a
11	RAD21	chr8:11410447-11412527	SK-N-SH	brain:	n/a	chr8:11411431-11411441
12	POLR2A	chr8:11410208-11410700	GM12892	blood:	n/a	n/a
13	SMC3	chr8:11410426-11413393	SK-N-SH	brain:	n/a	chr8:11411431-11411445
14	POLR2A	chr8:11410214-11410685	GM12891	blood:	n/a	n/a
15	POLR2A	chr8:11410072-11411657	GM18505	blood:	n/a	n/a
16	MAX	chr8:11410425-11410695	H1-hESC	embryonic stem cell:	n/a	chr8:11410548-11410558 chr8:11410573-11410588 chr8:11410502-11410512 chr8:11410577-11410584
17	POLR2A	chr8:11410260-11410878	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:11410253-11410766	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:11410081-11412495	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11410286-11410772	GM12891	blood:	n/a	n/a
21	POLR2A	chr8:11410310-11410770	GM12892	blood:	n/a	n/a
22	POLR2A	chr8:11408969-11419349	GM12878	blood:	n/a	n/a
23	NFATC1	chr8:11410212-11410699	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
2	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:

Variant related genes	Relation type
ENSG00000269954	TF binding region
ENSG00000255518	Chromatin interaction
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12678951	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
17	esv3429502	chr8:11408343-11412741	Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404000-11411000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:11404600-11418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr8:11406000-11417600	Genic enhancers	Primary B cells from cord blood	blood
5	chr8:11407000-11410800	Strong transcription	Dnd41	blood
6	chr8:11407800-11412000	Genic enhancers	GM12878-XiMat	blood
7	chr8:11407800-11412200	Weak transcription	HUVEC	blood vessel
8	chr8:11409600-11412800	Weak transcription	Spleen	Spleen
9	chr8:11409800-11410800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11409800-11410800	Weak transcription	HSMM	muscle
11	chr8:11409800-11411000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:11409800-11414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:11410200-11411400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:11410400-11410600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:11410400-11410600	ZNF genes & repeats	Fetal Kidney	kidney
16	chr8:11410400-11411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus

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