Variant report

Variant	rs542040609
Chromosome Location	chr6:30379252-30379253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

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	CTCF	chr6:30379140-30379689	HCT-116	colon:	n/a	n/a
6	ZNF143	chr6:30379215-30379548	GM12878	blood:	n/a	n/a
7	RAD21	chr6:30379238-30379538	IMR90	lung:	n/a	n/a
8	CTCF	chr6:30379200-30379350	HCM	heart:	n/a	n/a
9	CTCF	chr6:30379240-30379565	GM19239	blood:	n/a	n/a
10	CTCF	chr6:30379212-30379513	Lung_OC	lung:	n/a	n/a
11	CTCF	chr6:30379244-30379524	GM10266	blood:	n/a	n/a
12	CTCF	chr6:30379238-30379572	GM12892	blood:	n/a	n/a
13	CTCF	chr6:30379208-30379577	IMR90	lung:	n/a	n/a
14	CTCF	chr6:30379174-30379564	A549	lung:	n/a	n/a
15	CTCF	chr6:30379227-30379530	Medullo	brain:	n/a	n/a
16	CTCF	chr6:30379233-30379562	GM12891	blood:	n/a	n/a
17	RAD21	chr6:30379107-30379667	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr6:30379226-30379503	HepG2	liver:	n/a	n/a
19	ZNF143	chr6:30379243-30379597	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr6:30379224-30379484	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr6:30379249-30379510	LNCaP	prostate:	n/a	n/a
22	RAD21	chr6:30379194-30379608	SK-N-SH_RA	brain:	n/a	n/a
23	SMC3	chr6:30379230-30379538	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr6:30379237-30379546	Fibrobl	skin:	n/a	n/a
25	CTCF	chr6:30379243-30379557	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:30379137-30379518	A549	lung:	n/a	n/a
27	SMC3	chr6:30379229-30379448	HepG2	liver:	n/a	n/a
28	CTCF	chr6:30379242-30379545	MCF-7	breast:	n/a	n/a
29	SMC3	chr6:30379196-30379714	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr6:30379200-30379470	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr6:30379063-30379666	K562	blood:	n/a	n/a
32	CTCF	chr6:30379231-30379541	NHEK	skin:	n/a	n/a
33	CTCF	chr6:30379243-30379514	LNCaP	prostate:	n/a	n/a
34	CTCF	chr6:30379239-30379558	GM19240	blood:	n/a	n/a
35	RAD21	chr6:30379217-30379539	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:30379174-30379545	K562	blood:	n/a	n/a
37	CTCF	chr6:30379244-30379549	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr6:30379195-30379602	HepG2	liver:	n/a	n/a
39	CTCF	chr6:30379165-30379587	K562	blood:	n/a	n/a
40	CTCF	chr6:30379248-30379527	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:30379210-30379590	GM12878	blood:	n/a	n/a
42	CTCF	chr6:30379243-30379530	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr6:30379214-30379579	K562	blood:	n/a	n/a
44	CTCF	chr6:30379200-30379470	HAc	cerebellar:	n/a	n/a
45	CTCF	chr6:30379203-30379567	T-47D	breast:	n/a	n/a
46	ZNF143	chr6:30379229-30379530	K562	blood:	n/a	n/a
47	CTCF	chr6:30379246-30379539	GM13977	blood:	n/a	n/a
48	CTCF	chr6:30379237-30379545	K562	blood:	n/a	n/a
49	CTCF	chr6:30379232-30379610	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr6:30379224-30379608	H1-hESC	embryonic stem cell:	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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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