Variant report

Variant	rs527352524
Chromosome Location	chr6:33291998-33291999
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	REST	chr6:33290559-33292013	PFSK-1	brain:	n/a	chr6:33291345-33291355 chr6:33291319-33291328
2	MEF2A	chr6:33291951-33292380	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:33289855-33292052	GM12878	blood:	n/a	n/a
4	REST	chr6:33290553-33292083	PFSK-1	brain:	n/a	chr6:33291345-33291355 chr6:33291319-33291328
5	SPI1	chr6:33291689-33292365	HL-60	blood:	n/a	n/a
6	PML	chr6:33291621-33292330	GM12878	blood:	n/a	n/a
7	TCF3	chr6:33291981-33292154	GM12878	blood:	n/a	n/a
8	MTA3	chr6:33289315-33292314	GM12878	blood:	n/a	n/a
9	REST	chr6:33290502-33292252	HL-60	blood:	n/a	chr6:33291345-33291355 chr6:33291319-33291328
10	SPI1	chr6:33291917-33292347	HL-60	blood:	n/a	n/a
11	SPI1	chr6:33291780-33292337	GM12891	blood:	n/a	n/a
12	MXI1	chr6:33289631-33292178	SK-N-SH	brain:	n/a	n/a
13	REST	chr6:33291729-33292003	PANC-1	pancreas:	n/a	n/a
14	YY1	chr6:33291814-33292174	GM12878	blood:	n/a	n/a
15	EBF1	chr6:33291833-33292415	GM12878	blood:	n/a	chr6:33292236-33292247
16	STAT5A	chr6:33289598-33292237	GM12878	blood:	n/a	chr6:33291033-33291041 chr6:33291161-33291173
17	ATF2	chr6:33291441-33292362	GM12878	blood:	n/a	n/a
18	RUNX3	chr6:33291720-33292280	GM12878	blood:	n/a	n/a
19	FOXM1	chr6:33291717-33292380	GM12878	blood:	n/a	n/a
20	FOXM1	chr6:33290454-33292426	GM12878	blood:	n/a	n/a
21	RUNX3	chr6:33291756-33292364	GM12878	blood:	n/a	n/a
22	REST	chr6:33290662-33292042	ECC-1	luminal epithelium:	n/a	chr6:33291345-33291355 chr6:33291319-33291328
23	POLR2A	chr6:33289718-33292167	GM12891	blood:	n/a	n/a
24	REST	chr6:33290668-33292105	PANC-1	pancreas:	n/a	chr6:33291345-33291355 chr6:33291319-33291328
25	SPI1	chr6:33291854-33292324	GM12891	blood:	n/a	n/a
26	JUND	chr6:33289710-33292189	GM12878	blood:	n/a	chr6:33291020-33291029 chr6:33289933-33289942 chr6:33289932-33289941 chr6:33290833-33290842
27	MTA3	chr6:33291663-33292321	GM12878	blood:	n/a	n/a
28	NFIC	chr6:33291847-33292374	GM12878	blood:	n/a	n/a
29	SPI1	chr6:33291636-33292425	GM12878	blood:	n/a	chr6:33291679-33291692
30	BCLAF1	chr6:33291673-33292307	GM12878	blood:	n/a	n/a
31	NFIC	chr6:33291713-33292361	GM12878	blood:	n/a	n/a
32	ZNF384	chr6:33290675-33292770	GM12878	blood:	n/a	n/a
33	IKZF1	chr6:33291832-33292366	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:33289858-33292002	HepG2	liver:	n/a	n/a
35	SPI1	chr6:33291826-33292295	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33247934..33250111-chr6:33290391..33292325,2	MCF-7	breast:
2	chr6:33238587..33240368-chr6:33290664..33293261,2	MCF-7	breast:
3	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
4	chr6:33291002..33293744-chr6:33298689..33300454,2	K562	blood:
5	chr6:33166722..33169414-chr6:33289909..33292602,2	K562	blood:
6	chr6:33285348..33292496-chr6:33357328..33361566,13	K562	blood:
7	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
8	chr6:33290607..33292474-chr6:33296152..33298353,3	MCF-7	breast:

Variant related genes	Relation type
DAXX	TF binding region
ENSG00000202441	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000204209	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33289200-33292000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:33289400-33292000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:33289400-33292000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:33289600-33292400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:33289800-33292000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:33289800-33292000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:33289800-33292000	Active TSS	A549	lung
8	chr6:33291000-33292000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr6:33291000-33292000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:33291000-33292000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:33291000-33292000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:33291000-33292000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr6:33291000-33292200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:33291000-33292200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:33291000-33292400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr6:33291000-33292400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:33291200-33292000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:33291200-33292000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:33291200-33292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:33291200-33292000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:33291200-33292000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr6:33291200-33292000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:33291200-33292000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:33291200-33292000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr6:33291200-33292000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr6:33291200-33292000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr6:33291200-33292000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:33291200-33292000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:33291200-33292000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:33291200-33292000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:33291200-33292000	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr6:33291200-33292000	Flanking Active TSS	Fetal Brain Female	brain
33	chr6:33291200-33292000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr6:33291200-33292000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr6:33291200-33292000	Flanking Active TSS	HUVEC	blood vessel
36	chr6:33291200-33292000	Flanking Active TSS	NH-A	brain
37	chr6:33291200-33292200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr6:33291200-33292200	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:33291200-33292200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:33291200-33292200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:33291200-33292200	Flanking Active TSS	Fetal Thymus	thymus
42	chr6:33291200-33292200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr6:33291200-33292400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:33291200-33292600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:33291400-33292000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:33291400-33292000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:33291400-33292000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr6:33291400-33292000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:33291400-33292000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr6:33291400-33292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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