Variant report

Variant	rs570584427
Chromosome Location	chr6:27218713-27218714
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	MAX	chr6:27218573-27219998	K562	blood:	n/a	n/a
2	YY1	chr6:27218655-27220079	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr6:27218678-27219909	K562	blood:	n/a	n/a
4	TAF1	chr6:27218687-27219335	K562	blood:	n/a	n/a
5	CBX3	chr6:27218575-27220172	K562	blood:	n/a	n/a
6	CREB1	chr6:27218655-27219384	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr6:27218428-27220231	K562	blood:	n/a	n/a
8	MAX	chr6:27218549-27220163	MCF-7	breast:	n/a	n/a
9	ATF2	chr6:27218585-27219274	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZBTB7A	chr6:27218403-27219867	K562	blood:	n/a	n/a
11	MAX	chr6:27218635-27220214	K562	blood:	n/a	n/a
12	UBTF	chr6:27218482-27218733	K562	blood:	n/a	n/a
13	JUND	chr6:27218688-27219960	K562	blood:	n/a	n/a
14	E2F6	chr6:27218276-27219991	K562	blood:	n/a	chr6:27218683-27218695
15	POLR2A	chr6:27218606-27219930	K562	blood:	n/a	n/a
16	E2F6	chr6:27218167-27219373	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
17	SP4	chr6:27218691-27219154	H1-hESC	embryonic stem cell:	n/a	chr6:27219046-27219057 chr6:27218982-27218993
18	MAX	chr6:27218693-27218929	K562	blood:	n/a	n/a
19	ZEB1	chr6:27218637-27219276	GM12878	blood:	n/a	chr6:27218915-27218924
20	POLR2A	chr6:27218696-27220117	SK-N-MC	brain:	n/a	n/a
21	ZBTB7A	chr6:27218535-27219894	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
23	POLR2A	chr6:27218700-27219260	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr6:27218708-27219348	H1-hESC	embryonic stem cell:	n/a	chr6:27219294-27219304 chr6:27219294-27219303 chr6:27219293-27219305 chr6:27219046-27219057 chr6:27219295-27219304 chr6:27219293-27219305 chr6:27218982-27218993 chr6:27219295-27219304
25	GABPA	chr6:27218591-27219348	MCF-7	breast:	n/a	n/a
26	TCF12	chr6:27218557-27219250	ECC-1	luminal epithelium:	n/a	n/a
27	RUNX3	chr6:27218686-27219364	GM12878	blood:	n/a	n/a
28	STAT5A	chr6:27218530-27219011	GM12878	blood:	n/a	n/a
29	TAF1	chr6:27218677-27219231	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:27218568-27220066	ECC-1	luminal epithelium:	n/a	n/a
31	ELF1	chr6:27218520-27220032	MCF-7	breast:	n/a	n/a
32	E2F6	chr6:27218278-27219363	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
33	POLR2A	chr6:27218663-27219357	GM12878	blood:	n/a	n/a
34	MYC	chr6:27218705-27219980	K562	blood:	n/a	n/a
35	BCLAF1	chr6:27218632-27219305	GM12878	blood:	n/a	chr6:27218786-27218799
36	CREB1	chr6:27218621-27219282	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr6:27218459-27219237	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZBTB7A	chr6:27218357-27219821	K562	blood:	n/a	n/a
39	TCF12	chr6:27218698-27219193	H1-hESC	embryonic stem cell:	n/a	n/a
40	RCOR1	chr6:27218625-27220103	K562	blood:	n/a	n/a
41	CREB1	chr6:27218664-27219268	A549	lung:	n/a	n/a
42	POLR2A	chr6:27218704-27220032	MCF10A-Er-Src	breast:	n/a	n/a
43	MAX	chr6:27218600-27220170	ECC-1	luminal epithelium:	n/a	n/a
44	ATF2	chr6:27218636-27219343	H1-hESC	embryonic stem cell:	n/a	n/a
45	NR2F2	chr6:27218216-27219252	K562	blood:	n/a	n/a
46	POLR2A	chr6:27218650-27219918	MCF-7	breast:	n/a	n/a
47	POLR2A	chr6:27218580-27220077	K562	blood:	n/a	n/a
48	ELF1	chr6:27218622-27219362	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:27218606-27219890	K562	blood:	n/a	n/a
50	MAX	chr6:27218677-27220110	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:
7	chr6:27218208..27219861-chr6:27859108..27862899,3	K562	blood:

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000196747	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196331	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:27218000-27218800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:27218000-27220000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr6:27218200-27218800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr6:27218200-27219800	Bivalent/Poised TSS	Aorta	Aorta
9	chr6:27218200-27220000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27218200-27220000	Active TSS	A549	lung
11	chr6:27218200-27220200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:27218200-27220200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:27218200-27220200	Active TSS	Duodenum Mucosa	Duodenum
14	chr6:27218200-27220400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:27218400-27218800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:27218400-27218800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:27218400-27218800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr6:27218400-27218800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:27218400-27218800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:27218400-27218800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:27218400-27218800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:27218400-27218800	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr6:27218400-27218800	Active TSS	Lung	lung
24	chr6:27218400-27218800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:27218400-27218800	Bivalent/Poised TSS	Psoas Muscle	Psoas
26	chr6:27218400-27218800	Bivalent/Poised TSS	Thymus	Thymus
27	chr6:27218400-27218800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr6:27218400-27219000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:27218400-27219000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr6:27218400-27219000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:27218400-27219000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:27218400-27219000	Flanking Active TSS	HMEC	breast
33	chr6:27218400-27219200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
34	chr6:27218400-27219200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:27218400-27219400	Active TSS	Right Ventricle	heart
36	chr6:27218400-27219800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr6:27218400-27219800	Active TSS	Gastric	stomach
38	chr6:27218400-27219800	Active TSS	Pancreas	Pancrea
39	chr6:27218400-27220000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:27218400-27220000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:27218400-27220000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr6:27218400-27220000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:27218400-27220000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
44	chr6:27218400-27220200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr6:27218400-27220200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:27218400-27220200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr6:27218400-27220400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:27218400-27220600	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:27218600-27218800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:27218600-27218800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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