Variant report

Variant	rs539716504
Chromosome Location	chr8:11420995-11420996
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	CTCF	chr8:11420980-11421130	GM12871	blood:	n/a	chr8:11421116-11421125 chr8:11421021-11421034
2	POLR2A	chr8:11420963-11422504	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11420648-11421705	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:11420138-11422456	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11420282-11423813	GM19193	blood:	n/a	n/a
6	POLR2A	chr8:11420301-11421344	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:11420541-11423799	GM12878	blood:	n/a	n/a
8	RUNX3	chr8:11420798-11421017	GM12878	blood:	n/a	n/a
9	STAT5A	chr8:11420634-11421002	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:11420200-11423844	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11419462-11423966	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11419767-11422454	GM12878	blood:	n/a	n/a
13	CTCF	chr8:11420900-11421050	HEK293	kidney:	n/a	chr8:11421021-11421034
14	POLR2A	chr8:11419550-11423949	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:11419616-11423863	GM18505	blood:	n/a	n/a
16	SMC3	chr8:11420537-11422793	SK-N-SH	brain:	n/a	chr8:11420824-11420838 chr8:11421118-11421126 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11420774-11420784
17	POLR2A	chr8:11420979-11422506	GM15510	blood:	n/a	n/a
18	MXI1	chr8:11420877-11422734	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr8:11420940-11421090	HBMEC	blood vessel:	n/a	chr8:11421021-11421034
20	MTA3	chr8:11420850-11423955	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
2	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
3	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:

Variant related genes	Relation type
ENSG00000255354	TF binding region
ENSG00000269954	Chromatin interaction
ENSG00000254774	Chromatin interaction
ENSG00000255518	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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	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
18	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11416200-11421600	Weak transcription	Spleen	Spleen
3	chr8:11417000-11421000	Strong transcription	GM12878-XiMat	blood
4	chr8:11417000-11421600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:11418200-11421200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:11420200-11421000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11420200-11421200	Weak transcription	Pancreas	Pancrea
8	chr8:11420600-11421000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:11420600-11421000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:11420800-11421000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
11	chr8:11420800-11421200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr8:11420800-11421800	Bivalent Enhancer	Fetal Thymus	thymus
13	chr8:11420800-11422400	Weak transcription	Dnd41	blood

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