Variant report

Variant	rs559570011
Chromosome Location	chr6:30379476-30379477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30379251-30379517	HepG2	liver:	n/a	n/a
2	CTCF	chr6:30379215-30379537	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr6:30379250-30379528	GM12878	blood:	n/a	n/a
4	CTCF	chr6:30379239-30379563	A549	lung:	n/a	n/a
5	POLR2A	chr6:30379325-30379543	HUVEC	blood vessel:	n/a	n/a
6	RAD21	chr6:30379265-30379518	HepG2	liver:	n/a	n/a
7	EBF1	chr6:30379312-30379583	GM12878	blood:	n/a	n/a
8	CTCF	chr6:30379140-30379689	HCT-116	colon:	n/a	n/a
9	ZNF143	chr6:30379215-30379548	GM12878	blood:	n/a	n/a
10	CTCF	chr6:30379340-30379490	GM12864	blood:	n/a	n/a
11	RAD21	chr6:30379238-30379538	IMR90	lung:	n/a	n/a
12	CTCF	chr6:30379340-30379490	HRE	kidney:	n/a	n/a
13	RAD21	chr6:30379287-30379485	A549	lung:	n/a	n/a
14	CTCF	chr6:30379263-30379511	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr6:30379240-30379565	GM19239	blood:	n/a	n/a
16	CTCF	chr6:30379340-30379490	GM12866	blood:	n/a	n/a
17	CTCF	chr6:30379360-30379510	GM06990	blood:	n/a	n/a
18	CTCF	chr6:30379212-30379513	Lung_OC	lung:	n/a	n/a
19	CTCF	chr6:30379340-30379490	SAEC	small airway:	n/a	n/a
20	CTCF	chr6:30379244-30379524	GM10266	blood:	n/a	n/a
21	CTCF	chr6:30379238-30379572	GM12892	blood:	n/a	n/a
22	CTCF	chr6:30379208-30379577	IMR90	lung:	n/a	n/a
23	CTCF	chr6:30379174-30379564	A549	lung:	n/a	n/a
24	CTCF	chr6:30379340-30379490	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr6:30379340-30379490	BJ	skin:	n/a	n/a
26	CTCF	chr6:30379227-30379530	Medullo	brain:	n/a	n/a
27	CTCF	chr6:30379233-30379562	GM12891	blood:	n/a	n/a
28	SIN3A	chr6:30379327-30379526	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:30379360-30379510	GM12801	blood:	n/a	n/a
30	RUNX3	chr6:30379273-30379543	GM12878	blood:	n/a	n/a
31	RAD21	chr6:30379107-30379667	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr6:30379360-30379510	HCM	heart:	n/a	n/a
33	YY1	chr6:30379226-30379503	HepG2	liver:	n/a	n/a
34	CTCF	chr6:30379340-30379490	HEEpiC	esophagus:	n/a	n/a
35	PBX3	chr6:30379303-30379515	GM12878	blood:	n/a	n/a
36	ZNF143	chr6:30379243-30379597	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr6:30379224-30379484	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr6:30379249-30379510	LNCaP	prostate:	n/a	n/a
39	CTCF	chr6:30379340-30379490	HFF	foreskin:	n/a	n/a
40	RAD21	chr6:30379194-30379608	SK-N-SH_RA	brain:	n/a	n/a
41	YY1	chr6:30379299-30379523	K562	blood:	n/a	n/a
42	SMC3	chr6:30379230-30379538	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr6:30379237-30379546	Fibrobl	skin:	n/a	n/a
44	EGR1	chr6:30379336-30379608	K562	blood:	n/a	n/a
45	CTCF	chr6:30379340-30379490	AG04449	skin:	n/a	n/a
46	MAX	chr6:30379275-30379507	K562	blood:	n/a	n/a
47	YY1	chr6:30379266-30379529	GM12878	blood:	n/a	n/a
48	CTCF	chr6:30379243-30379557	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:30379137-30379518	A549	lung:	n/a	n/a
50	CTCF	chr6:30379242-30379545	MCF-7	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30378981..30379484-chr6:30421470..30421976,2	K562	blood:

No data

Variant related genes	Relation type
MICC	TF binding region

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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	nsv884063	chr6:30366100-30397219	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv462742	chr6:30372570-30410206	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv601477	chr6:30372570-30410206	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv884064	chr6:30375290-30396173	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30379400-30379600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr6:30379400-30379600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:30379400-30379600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:30379400-30379600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr6:30379400-30379600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:30379400-30379600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
7	chr6:30379400-30379600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:30379400-30379600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
9	chr6:30379400-30379600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:30379400-30379600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:30379400-30379600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:30379400-30379600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:30379400-30379600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:30379400-30379600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr6:30379400-30379600	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr6:30379400-30379600	Bivalent Enhancer	Fetal Thymus	thymus
17	chr6:30379400-30379600	Enhancers	Gastric	stomach
18	chr6:30379400-30379600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
19	chr6:30379400-30379600	Bivalent Enhancer	Right Atrium	heart
20	chr6:30379400-30379600	Flanking Active TSS	Spleen	Spleen
21	chr6:30379400-30379600	Enhancers	HepG2	liver
22	chr6:30379400-30379600	Enhancers	K562	blood
23	chr6:30379400-30379800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:30379400-30379800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr6:30379400-30379800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr6:30379400-30379800	Bivalent Enhancer	Primary T cells from cord blood	blood
27	chr6:30379400-30379800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr6:30379400-30379800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr6:30379400-30379800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:30379400-30379800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:30379400-30379800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr6:30379400-30379800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:30379400-30379800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:30379400-30379800	Bivalent Enhancer	Psoas Muscle	Psoas
35	chr6:30379400-30380000	Enhancers	Pancreas	Pancrea

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