Variant report

Variant	rs189189424
Chromosome Location	chr6:33292382-33292383
allele	C/T
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	EBF1	chr6:33292069-33292400	GM12878	blood:	n/a	chr6:33292236-33292247
2	EBF1	chr6:33291833-33292415	GM12878	blood:	n/a	chr6:33292236-33292247
3	FOXM1	chr6:33290454-33292426	GM12878	blood:	n/a	n/a
4	SPI1	chr6:33291636-33292425	GM12878	blood:	n/a	chr6:33291679-33291692
5	ZNF384	chr6:33290675-33292770	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33238587..33240368-chr6:33290664..33293261,2	MCF-7	breast:
2	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
3	chr6:33291002..33293744-chr6:33298689..33300454,2	K562	blood:
4	chr6:33166722..33169414-chr6:33289909..33292602,2	K562	blood:
5	chr6:33285348..33292496-chr6:33357328..33361566,13	K562	blood:
6	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
7	chr6:33290607..33292474-chr6:33296152..33298353,3	MCF-7	breast:

Variant related genes	Relation type
DAXX	TF binding region
ENSG00000112473	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000197283	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv10737	chr6:33289511-33296285	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3517091	chr6:33291574-33296772	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3517093	chr6:33291947-33297217	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3330941	chr6:33292074-33297072	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33289600-33292400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:33291000-33292400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr6:33291000-33292400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:33291200-33292400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr6:33291200-33292600	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
7	chr6:33292000-33292400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:33292000-33292400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:33292000-33292400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:33292000-33292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:33292000-33292400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:33292000-33292400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:33292000-33292400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:33292000-33292400	Enhancers	Fetal Intestine Large	intestine
15	chr6:33292000-33292400	Active TSS	GM12878-XiMat	blood
16	chr6:33292000-33292600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:33292000-33292800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:33292000-33293200	Weak transcription	Placenta	Placenta
19	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:33292000-33296800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:33292200-33292400	Enhancers	Primary T cells from cord blood	blood
23	chr6:33292200-33292400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:33292200-33292400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:33292200-33292600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:33292200-33292800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:33292200-33292800	Enhancers	Primary hematopoietic stem cells	blood

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