Variant report

Variant	rs375147680
Chromosome Location	chr15:42442368-42442369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:42442162-42442544	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr15:42442280-42442466	HepG2	liver:	n/a	n/a
3	CTCF	chr15:42442320-42442470	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr15:42442234-42442459	K562	blood:	n/a	n/a
5	CTCF	chr15:42442246-42442464	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:42442269-42442443	HepG2	liver:	n/a	n/a
7	CTCF	chr15:42442240-42442462	K562	blood:	n/a	n/a
8	RAD21	chr15:42442157-42442535	HepG2	liver:	n/a	n/a
9	RAD21	chr15:42442321-42442420	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr15:42442260-42442410	HCT-116	colon:	n/a	n/a
11	CTCF	chr15:42442317-42442402	NHEK	skin:	n/a	n/a
12	CTCF	chr15:42442270-42442469	MCF-7	breast:	n/a	n/a
13	SMC3	chr15:42442275-42442442	HepG2	liver:	n/a	chr15:42442402-42442412
14	CTCF	chr15:42442240-42442390	K562	blood:	n/a	n/a
15	CTCF	chr15:42442249-42442467	K562	blood:	n/a	n/a
16	CTCF	chr15:42442240-42442390	AG04449	skin:	n/a	n/a
17	CTCF	chr15:42442196-42442486	HepG2	liver:	n/a	n/a
18	CTCF	chr15:42442299-42442447	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:42442280-42442430	GM12871	blood:	n/a	n/a
20	CTCF	chr15:42442282-42442423	MCF-7	breast:	n/a	n/a
21	CTCF	chr15:42442240-42442390	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr15:42442269-42442564	HCT-116	colon:	n/a	n/a
23	CTCF	chr15:42442220-42442370	HEEpiC	esophagus:	n/a	n/a
24	RAD21	chr15:42442222-42442506	HepG2	liver:	n/a	n/a
25	CTCF	chr15:42442285-42442454	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr15:42442219-42442516	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:42442320-42442470	A549	lung:	n/a	n/a
28	CTCF	chr15:42442220-42442370	GM12873	blood:	n/a	n/a
29	RAD21	chr15:42442095-42442550	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr15:42442220-42442370	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr15:42442300-42442450	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr15:42442156-42442540	HepG2	liver:	n/a	n/a
33	CTCF	chr15:42442260-42442410	HepG2	liver:	n/a	n/a
34	CTCF	chr15:42442300-42442450	GM12872	blood:	n/a	n/a
35	CTCF	chr15:42442276-42442401	K562	blood:	n/a	n/a
36	CTCF	chr15:42442327-42442378	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:42442250-42442432	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42430104..42432134-chr15:42441613..42443649,2	K562	blood:
2	chr15:42441690..42443791-chr15:42450046..42452930,3	K562	blood:
3	chr15:42438588..42441073-chr15:42442171..42444536,4	MCF-7	breast:
4	chr15:42434313..42438019-chr15:42440873..42442932,3	K562	blood:
5	chr15:42442020..42443791-chr15:42450046..42452930,2	K562	blood:
6	chr15:42358352..42359263-chr15:42441667..42442628,3	MCF-7	breast:

No data

Variant related genes	Relation type
PLA2G4F	TF binding region
ENSG00000168907	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv9245	chr15:42441849-42453572	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42433800-42442800	Weak transcription	Gastric	stomach
3	chr15:42434600-42442600	Weak transcription	Esophagus	oesophagus
4	chr15:42435000-42442400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:42435800-42443400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:42435800-42443600	Weak transcription	Colonic Mucosa	Colon
7	chr15:42436000-42452000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42439200-42442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:42439400-42442800	Weak transcription	NHEK	skin
10	chr15:42439400-42443600	Weak transcription	Placenta	Placenta
11	chr15:42439400-42451200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:42439400-42451800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:42439600-42443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:42439600-42444200	Weak transcription	Fetal Intestine Small	intestine
15	chr15:42439600-42448600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:42441200-42450600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:42441600-42443000	Bivalent Enhancer	HepG2	liver
18	chr15:42441600-42443600	Weak transcription	Left Ventricle	heart
19	chr15:42441600-42446200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:42441800-42451000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:42442000-42443000	Weak transcription	Right Ventricle	heart
22	chr15:42442000-42443600	Weak transcription	Fetal Heart	heart
23	chr15:42442200-42442800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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